Varaico: Literature-Extracted Genetic Variants

EGR2

310 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie...

Pfam Domains

DUF3446aa 94–204UCSCEarly growth response N-terminal domain

zf-C2H2aa 340–364UCSCZinc finger, C2H2 type

zf-C2H2aa 370–392UCSCZinc finger, C2H2 type

zf-C2H2aa 398–420UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

early growth response 2

HGNC Previous Symbol

KROX20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000399.5

p.T358A

c.1072A>G

Surrounding Variants

38 papers

NM_000399.5

p.R359W

c.1075C>T

14 papers

NM_000399.5

p.R359Q

c.1076G>A

1 paper

NM_000399.5

p.E356Q

c.1066G>C

17 papers

NM_000399.5

p.E356K

c.1066G>A

1 paper

NM_000399.5

p.H360Y

c.1078C>T

1 paper

NM_000399.5

p.D355E

c.1065C>G

1 paper

NM_000399.5

p.D355E

c.1065C>A

12 papers

NM_000399.5

p.D355V

c.1064A>T

4 papers

NM_000399.5

p.D355G

c.1064A>G

2 papers

NM_000399.5

p.D355N

c.1063G>A

1 paper

NM_000399.5

p.R362R

c.1086A>G

4 papers

NM_000399.5

p.R362R

c.1086A>C