Unique variants in the EGR2 gene

Information The variants shown are described using the NM_000399.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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 2 c.1075C>T r.(?) p.(Arg359Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.64573323G>A Boerkoel CF1, Takashima H, Bacino CA, Daentl D, Lupski JR.(2001) EGR2_000002 - Y Yang
./. 1 2 c.1225C>T r.(?) p.(Arg409Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.64573173G>A Warner LE1, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR.(1998) EGR2_000001 - Y Yang
./. 1 2 c.1226G>A r.(?) p.(Arg409Gln) - - g.64573172C>T Sevilla T et al. (2015) EGR2_000004 - XY Liu
./. 1 2 c.1234G>A r.(?) p.(Glu412Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.64573164C>T 1 more item EGR2_000003 - Y Yang
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