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

25 papers

NM_000399.5

p.R409W

c.1225C>T

Surrounding Variants

6 papers

NM_000399.5

p.R409Q

c.1226G>A

1 paper

NM_000399.5

p.C400_R409del10

c.1198_1226del30

4 papers

NM_000399.5

p.D411Y

c.1231G>T

4 papers

NM_000399.5

p.D411H

c.1231G>C

4 papers

NM_000399.5

p.D411N

c.1231G>A

5 papers

NM_000399.5

p.D411G

c.1232A>G

1 paper

NM_000399.5

p.D411A

c.1232A>C

1 paper

NM_000399.5

p.D411E

c.1233T>G

1 paper

NM_000399.5

p.D411E

c.1233T>A

2 papers

NM_000399.5

p.E412Q

c.1234G>C

11 papers

NM_000399.5

p.E412K

c.1234G>A

8 papers

NM_000399.5

p.E412G

c.1235A>G