Point mutation

PMID Year Name Pathologic Function Symbol Details
11313998 2001 p14ARF mutation Tumorigenesis CDKN2A Details
11313998 2001 TP53 mutation Tumorigenesis TP53 Details
15695117 2005 CCND1 A/G870 N/A CCND1 Details
15695117 2005 CCND1 GG870 N/A CCND1 Details
16373199 2006 MGMT Leu84Phe polymorphism N/A MGMT Details
16373199 2006 MGMT Trp65Cys polymorphism N/A MGMT Details
16373199 2006 XPC Lys939Gln polymorphism N/A XPC Details
16373199 2006 XPC PAT polymorphism N/A XPC Details
16373199 2006 XPD exon 6 polymorphism N/A ERCC2 Details
16373199 2006 XPD Lys751Gln polymorphism N/A ERCC2 Details
16373199 2006 XRCC1 Arg194Trp polymorphism N/A XRCC1 Details
16373199 2006 XRCC1 Arg399Gln polymorphism N/A XRCC1 Details
16373199 2006 XRCC3 Thr241Met polymorphism N/A XRCC3 Details
17143481 2007 AXIN1 codon 254 polymorphism N/A AXIN1 Details
17143481 2007 AXIN1 codon 429 polymorphism N/A AXIN1 Details
17143481 2007 AXIN1 codon 525 polymorphism N/A AXIN1 Details
17143481 2007 AXIN1 codon 609 polymorphism N/A AXIN1 Details
17143481 2007 AXIN1 heterozygous mutation at codon 488 in exon 5 N/A AXIN1 Details
17143481 2007 AXIN1 heterozygous mutation in intron 7 N/A AXIN1 Details
17143481 2007 AXIN1 intron 4+17 polymorphism N/A AXIN1 Details
17174061 2007 IL-8 (251 A/T) polymorphism Carcinogenesis, Tumorigenesis, and Metastasis CXCL8 Details
17342343 2007 TIMP-2 -418 G/C polymorphism N/A TIMP2 Details
17428692 2007 IL-4 -590 C/T N/A IL4 Details
17617834 2007 MMP-9 -1562 C>T polymorphism N/A MMP9 Details
17919326 2007 Single nucleotide polymorphisms in promoter regions of MMP-1 N/A MMP1 Details
17919326 2007 Single nucleotide polymorphisms in promoter regions of MMP-3 N/A MMP3 Details
17498910 2008 MMP-9 1562 C/T N/A MMP9 Details
18273643 2008 IL-10 (-1082A/G) N/A IL10 Details
18273643 2008 IL-1 beta (+3953C/T) N/A IL1B Details
18273643 2008 IL-4 (-590C/T) N/A IL4 Details
18273643 2008 IL-6 (-174G/C) N/A IL6 Details
18273643 2008 IL-8 (-251A/T) N/A CXCL8 Details
18273643 2008 TNF-alpha (-308G/A) N/A TNF Details
18273643 2008 TNF-beta (+252G/A) N/A LTA Details
18849186 2009 HER-2 mutation N/A ERBB2 Details
19126640 2009 SULT1A1 haplotypes N/A SULT1A1 Details
19394797 2009 ECRG1 single nucleotide polymorphism N/A TMPRSS11A Details
19702947 2009 HBD-1 mutation N/A DEFB1 Details
20656543 2010 HIF-1a C1772T N/A HIF1A Details
20656543 2010 HIF-1a G1790A N/A HIF1A Details
21824802 2011 PIK3CA mutation N/A PIK3CA Details
22294102 2012 BRAF mutation N/A BRAF Details
22887904 2012 Cyclooxygenase-2 765G>G N/A PTGS2 Details
23481570 2012 ECRG1 single nucleotide polymorphism N/A TMPRSS11A Details
23481570 2012 FGFR4 single nucleotide polymorphism N/A FGFR4 Details
25398690 2014 IL-18 -137 G/C polymorphism N/A IL18 Details
25398690 2014 IL-18 -607 C/A polymorphism N/A IL18 Details
25051952 2015 VEGF -460 C/T polymorphism N/A VEGFA Details
25519014 2015 TNF-(-308) G/A polymorphisms N/A TNF Details
25519014 2015 TNF-238 polymorphisms N/A TNF Details
26453385 2015 PIK3CA mutation N/A PIK3CA Details
26447891 2016 APC A545A mutation N/A APC Details
26447891 2016 APC D1822Vmutation N/A APC Details
26447891 2016 APC L335L mutation N/A APC Details
26447891 2016 APC T1493T mutation N/A APC Details
26447891 2016 APC T496T mutation N/A APC Details
26447891 2016 APC Y191Y mutation N/A APC Details
26447891 2016 APC Y486Y mutation N/A APC Details
28982581 2018 L-10 polymorphism KT153594.1 N/A IL10 Details
28982581 2018 L-10 polymorphism KT291742.1 N/A IL10 Details
28982581 2018 L-10 polymorphism KT291743.1 N/A IL10 Details
30041611 2018 CDH1 mutation N/A CDH1 Details
30205554 2018 BIRC5 mutation N/A BIRC5 Details
32115621 2020 Adgrb3(BAI3) SNV N/A ADGRB3 Details
32115621 2020 BRINP2 SNV N/A BRINP2 Details
32115621 2020 CAP2 SNV N/A CAP2 Details
32115621 2020 CELSR1 SNV Adhesion CELSR1 Details
32115621 2020 CELSR3 SNV Adhesion CELSR3 Details
32115621 2020 COL6A4 (COL6A4P1) SNV Adhesion COL6A4P1 Details
32115621 2020 DDR1 SNV Adhesion DDR1 Details
32115621 2020 FAT2 SNV Adhesion FAT2 Details
32115621 2020 FAT4 SNV N/A FAT4 Details
32115621 2020 LAMA1 SNV N/A LAMA1 Details
32115621 2020 NOTCH1 SNV N/A NOTCH1 Details
32115621 2020 PCDH11X SNV Adhesion PCDH11X Details
32115621 2020 PLEC SNV Adhesion PLEC Details
33246423 2020 TGFBR2 receptor II mutation (I227T/N236D) N/A TGFBR2 Details
33993060 2021 NOTCH1 c.842 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.3280 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1234 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.5071 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1629 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1150 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1247 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.962 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.4115 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.6311 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.5882 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1019 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1016 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.961 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.4361 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.3243 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1115 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1412 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.5361 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1463 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1451 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1253 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1270 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.6317 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.5990 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.5167+5 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1670-7 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1042 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.4432 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1226 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.2272 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1393 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.2969+1 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1342 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.4687 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1241 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.1255+1 mutation Staging NOTCH1 Details
33993060 2021 NOTCH1 c.3326-1 mutation Staging NOTCH1 Details
36586077 2022 NOMO1 mutation Staging and Tumorigenesis NOMO1 Details
36586077 2022 UBASH3B mutation Staging and Tumorigenesis UBASH3B Details
36586077 2022 PLEKHA4 mutation Staging and Tumorigenesis PLEKHA4 Details
36586077 2022 RNF112 mutation Tumorigenesis RNF112 Details
36586077 2022 ZSCAN5C mutation Tumorigenesis ZSCAN5C Details
36586077 2022 ZPBP mutation Tumorigenesis ZPBP Details
36522371 2022 TP53V31I Metastasis TP53 Details
36522371 2022 TP53R110L Metastasis TP53 Details
36522371 2022 TP53T125M Metastasis TP53 Details
36522371 2022 TP53P151S Metastasis TP53 Details
36522371 2022 TP53Y163C Metastasis TP53 Details
36522371 2022 TP53Y163N Metastasis TP53 Details
36522371 2022 TP53R175H Metastasis TP53 Details
36522371 2022 TP53C176F Metastasis TP53 Details
36522371 2022 TP53C176Y Metastasis TP53 Details
36522371 2022 TP53P177L Metastasis TP53 Details
36522371 2022 TP53H193R Metastasis TP53 Details
36522371 2022 TP53Y205C Metastasis TP53 Details
36522371 2022 TP53V216L Metastasis TP53 Details
36522371 2022 TP53Y220C Metastasis TP53 Details
36522371 2022 TP53M237I Metastasis TP53 Details
36522371 2022 TP53G244D Metastasis TP53 Details
36522371 2022 TP53G245S Metastasis TP53 Details
36522371 2022 TP53R248L Metastasis TP53 Details
36522371 2022 TP53R248W Metastasis TP53 Details
36522371 2022 TP53R249S Metastasis TP53 Details
36522371 2022 TP53R267P Metastasis TP53 Details
36522371 2022 TP53R273C Metastasis TP53 Details
36522371 2022 TP53C275Y Metastasis TP53 Details
36522371 2022 TP53R280K Metastasis TP53 Details
36522371 2022 TP53R282W Metastasis TP53 Details
36522371 2022 TP53E286K Metastasis TP53 Details
36522371 2022 TP53R306L Metastasis TP53 Details
36522371 2022 TP53A353V Metastasis TP53 Details
36522371 2022 TPW91* truncation mutation Metastasis, Survival, and Tumorigenesis TP53 Details
36522371 2022 TP53Y205* truncation mutation Metastasis, Survival, and Tumorigenesis TP53 Details
36522371 2022 TP53R213* truncation mutation Metastasis, Survival, and Tumorigenesis TP53 Details
36522371 2022 TP53C229* truncation mutation Metastasis, Survival, and Tumorigenesis TP53 Details
36522371 2022 TP53Y236* truncation mutation Metastasis, Survival, and Tumorigenesis TP53 Details
36522371 2022 TP53G266* truncation mutation Metastasis, Survival, and Tumorigenesis TP53 Details
36522371 2022 TP53Q331* truncation mutation Metastasis, Survival, and Tumorigenesis TP53 Details
36522371 2022 TP53R342* truncation mutation Metastasis, Survival, and Tumorigenesis TP53 Details
36522371 2022 TP53E343* truncation mutation Metastasis, Survival, and Tumorigenesis TP53 Details
35131479 2022 RIF1 mutation N/A RIF1 Details
35131479 2022 BRD4 mutation N/A BRD4 Details
35131479 2022 CGAS mutation N/A CGAS Details
35131479 2022 DDX11 mutation N/A DDX11 Details
35131479 2022 DDX11 mutation N/A DDX11 Details
35131479 2022 DDX11 mutation N/A DDX11 Details
35131479 2022 HNRNPH1 mutation N/A HNRNPH1 Details
35131479 2022 RAB3GAP1 mutation N/A RAB3GAP1 Details
35131479 2022 RAB3GAP1 mutation N/A RAB3GAP1 Details
35131479 2022 RAB3GAP1 mutation N/A RAB3GAP1 Details
35131479 2022 SUGP2 mutation N/A SUGP2 Details
35131479 2022 SUGP2 mutation N/A SUGP2 Details
35131479 2022 SUGP2 mutation N/A SUGP2 Details
35131479 2022 BCAP31 mutation N/A BCAP31 Details
35131479 2022 COL5A2 mutation N/A COL5A2 Details
35131479 2022 COL5A2 mutation N/A COL5A2 Details
35131479 2022 COL5A2 mutation N/A COL5A2 Details
35131479 2022 CREBBP mutation N/A CREBBP Details
35131479 2022 DOCK1 mutation N/A DOCK1 Details
35131479 2022 DOCK1 mutation N/A DOCK1 Details
35131479 2022 DOCK1 mutation N/A DOCK1 Details
35131479 2022 EIF2AK2 mutation N/A EIF2AK2 Details
35131479 2022 KDM5B mutation N/A KDM5B Details
35131479 2022 MICU2 mutation N/A MICU2 Details
35131479 2022 NUP54 mutation N/A NUP54 Details
35131479 2022 NUP54 mutation N/A NUP54 Details
35131479 2022 PIGC mutation N/A PIGC Details
35131479 2022 PRRC2B mutation N/A PRRC2B Details
35131479 2022 PRRC2B mutation N/A PRRC2B Details
35131479 2022 PRRC2B mutation N/A PRRC2B Details
35131479 2022 ARHGAP21 mutation N/A ARHGAP21 Details
35131479 2022 CIR1 mutation N/A CIR1 Details
35131479 2022 OSR2 mutation N/A OSR2 Details
35131479 2022 USP8 mutation N/A USP8 Details
35131479 2022 USP8 mutation N/A USP8 Details
35131479 2022 AKAP9 mutation N/A AKAP9 Details
35131479 2022 AKAP9 mutation N/A AKAP9 Details
35131479 2022 AKAP9 mutation N/A AKAP9 Details
35131479 2022 BIRC6 mutation N/A BIRC6 Details
35131479 2022 BIRC6 mutation N/A BIRC6 Details
35131479 2022 BIRC6 mutation N/A BIRC6 Details
35131479 2022 BIRC6 mutation N/A BIRC6 Details
35131479 2022 BIRC6 mutation N/A BIRC6 Details
35131479 2022 BIRC6 mutation N/A BIRC6 Details
35131479 2022 CAPN7 mutation N/A CAPN7 Details
35131479 2022 DDX42 mutation N/A DDX42 Details
35131479 2022 DNAJC2 mutation N/A DNAJC2 Details
35131479 2022 ERRFI1 mutation N/A ERRFI1 Details
35131479 2022 JMJD1C mutation N/A JMJD1C Details
35131479 2022 NAB1 mutation N/A NAB1 Details
35131479 2022 PAXBP1 mutation N/A PAXBP1 Details
35131479 2022 PAXBP1 mutation N/A PAXBP1 Details
35131479 2022 PLXNA1 mutation N/A PLXNA1 Details
35131479 2022 PLXNA1 mutation N/A PLXNA1 Details
35131479 2022 PLXNA1 mutation N/A PLXNA1 Details
35131479 2022 PLXNA1 mutation N/A PLXNA1 Details
35131479 2022 PLXNA1 mutation N/A PLXNA1 Details
35131479 2022 USP9X mutation N/A USP9X Details
35131479 2022 USP9X mutation N/A USP9X Details
35131479 2022 USP9X mutation N/A USP9X Details
35131479 2022 VPS35 mutation N/A VPS35 Details
35670448 2022 TP53 SNV Tumorigenesis and Survival TP53 Details
35670448 2022 CDKN2A SNV N/A CDKN2A Details
35670448 2022 NOTCH1 SNV N/A NOTCH1 Details
35670448 2022 CSMD1 SNV N/A CSMD1 Details
35670448 2022 CSMD2 SNV N/A CSMD2 Details
35670448 2022 DNAH6 SNV N/A DNAH6 Details
35670448 2022 FAT1 SNV N/A FAT1 Details
35670448 2022 RASA1 SNV N/A RASA1 Details
36374444 2023 H-ras mutation N/A HRAS Details
36374444 2023 H-ras mutation Recurrence HRAS Details
36374444 2023 H-ras mutation N/A HRAS Details
36374444 2023 H-ras mutation N/A HRAS Details
37604640 2023 TP53R175H GOF mutation Tumorigenesis TP53 Details
39324009 2024 TP53 mutation N/A TP53 Details
39324009 2024 FAT1 mutation N/A FAT1 Details
39324009 2024 GNAQ mutation N/A GNAQ Details
39324009 2024 CDKN2A mutation N/A CDKN2A Details
39324009 2024 NOTCH1 mutation N/A NOTCH1 Details
39324009 2024 BCR mutation N/A BCR Details
39278377 2024 rs708776/0c.1655C>A N/A ITPKB Details
39278377 2024 rs6667260/c.1222 T>G N/A ITPKB Details
39278377 2024 rs6667260/c.1432 T>C N/A PDGFRA Details
39278377 2024 rs79512956/0c.2510C>G N/A APC Details
39278377 2024 rs199504848/0c.2726G>A N/A KMT2C Details
39278377 2024 rs1169288/0c.79A>C N/A HNF1A Details
39278377 2024 rs25487/0c.1196A>G Survival and Pathogenesis XRCC1 Details
38992585 2024 TP53 mutation Tumorigenesis TP53 Details
36522371 2022 NOTCH1 missense mutation NOTCH1 Details
36522371 2022 NOTCH1 truncation mutation NOTCH1 Details
36522371 2022 NOTCH1 nonsense mutation NOTCH1 Details
36522371 2022 BRAF missense mutation BRAF Details
36522371 2022 CDKN2A missense mutation CDKN2A Details
36522371 2022 CDKN2A truncation mutation CDKN2A Details
36522371 2022 CDKN2A nonsense mutation CDKN2A Details
36522371 2022 FBXW7 missense mutation FBXW7 Details
36522371 2022 FBXW7 truncation mutation FBXW7 Details
36522371 2022 HRAS missense mutation HRAS Details
36522371 2022 PIK3CA missense mutation PIK3CA Details
36522371 2022 PIK3CA truncation mutation PIK3CA Details