Unique variants in the COQ2 gene

Information The variants shown are described using the NM_015697.7 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 1 c.30G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.84206038C>T 1 more item COQ2_000001 - Y Yang
./. 1 1 c.61G>A r.(?) p.(Gly21Ser) - - g.84206007C>T Sun Z et al. (2016) COQ2_000018 - XY Liu
./. 1 1 c.64A>T r.(?) p.(Arg22*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.84206004T>A 1 more item COQ2_000002 - Y Yang
./. 1 1 c.73T>G r.(?) p.(Leu25Val) - - g.84205995A>C Sun Z et al. (2016) COQ2_000019 - XY Liu
./. 1 1 c.96G>T r.(=) p.(=) - - g.84205972C>A Wen XD et al. (2015) COQ2_000017 - XY Liu
./. 1 1 c.161C>G r.(?) p.(Ser54Trp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.84205907G>C 1 more item COQ2_000003 - Y Yang
./. 1 1 c.196G>C r.(?) p.(Val66Leu) - - g.84205872C>G Sun Z et al. (2016) COQ2_000020 - XY Liu
./. 1 1 c.196G>T r.(?) p.(Val66Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.84205872C>A 1 more item COQ2_000004 - Y Yang
./. 1 1i c.403+10G>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - g.84205655C>A 1 more item COQ2_000005 - Y Yang
./. 1 2 c.426A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.84200245T>C 1 more item COQ2_000006 - Y Yang
./. 1 2 c.437G>A r.(?) p.(Ser146Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.84200234C>T 1 more item COQ2_000007 - Y Yang
./. 1 2 c.469C>T r.(?) p.(Pro157Ser) - - g.84200202G>A Sun Z et al. (2016) COQ2_000021 - XY Liu
./. 1 2 c.484C>T r.(?) p.(Leu162Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.84200187G>A Chen YP1, Zhao B1, Cao B1, Song W1, Guo X1, Wei QQ1, Yang Y2, Yuan LX3, Shang HF4.(2015) COQ2_000015 - Y Yang
./. 2 2 c.518G>A r.(?) p.(Arg173His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.84200153C>T Wen XD et al. (2015), 1 more item COQ2_000012 - XY Liu, Y Yang
./. 1 5 c.801G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.84191124C>T 1 more item COQ2_000008 - Y Yang
./. 1 5 c.894T>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.84191031A>G 1 more item COQ2_000009 - Y Yang
./. 1 6 c.990C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.84188850G>A 1 more item COQ2_000010 - Y Yang
./. 1 7 c.1107C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.84185511G>A 1 more item COQ2_000011 - Y Yang
./. 1 7 c.1157A>T r.(?) p.(Asn386Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.84185461T>A Chen YP1, Zhao B1, Cao B1, Song W1, Guo X1, Wei QQ1, Yang Y2, Yuan LX3, Shang HF4.(2015) COQ2_000013 - Y Yang
./. 2 7 c.1178T>C r.(?) p.(Val393Ala) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.84185440A>G Sun Z et al. (2016), 1 more item COQ2_000014 - XY Liu, Y Yang
./. 1 7 c.1206G>T r.(?) p.(Leu402Phe) - - g.84185412C>A Wen XD et al. (2015) COQ2_000016 - XY Liu
./. 1 7 c.1264T>A r.(?) p.(*422Lysext*1) - - g.84185354A>T Sun Z et al. (2016) COQ2_000022 - XY Liu
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