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.P397H

c.1190C>A

Surrounding Variants

1 paper

NM_000399.5

p.H392Q

c.1176C>G

1 paper

NM_000399.5

p.C403_G404insT

c.1207_1211ins3

1 paper

NM_000399.5

p.R390H

c.1169G>A

1 paper

NM_000399.5

p.R405*

c.1213C>T

1 paper

NM_000399.5

p.R405Q

c.1214G>A

7 papers

NM_000399.5

p.T387N

c.1160C>A

25 papers

NM_000399.5

p.R409W

c.1225C>T

6 papers

NM_000399.5

p.R409Q

c.1226G>A

1 paper

NM_000399.5

p.L385I

c.1153C>A

1 paper

NM_000399.5

p.C400_R409del10

c.1198_1226del30

3 papers

NM_000399.5

p.H384R

c.1151A>G

17 papers

NM_000399.5

p.H384N

c.1150C>A