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.E337K

c.1009G>A

Surrounding Variants

1 paper

NM_000399.5

p.P339T

c.1015C>A

1 paper

NM_000399.5

p.P339L

c.1016C>T

1 paper

NM_000399.5

p.T333R

c.998C>G

1 paper

NM_000399.5

p.G346S

c.1036G>A

1 paper

NM_000399.5

p.G346D

c.1037G>A

2 papers

NM_000399.5

p.R349_R350insT

c.1045_1049ins3

2 papers

NM_000399.5

p.R324H

c.971G>A

1 paper

NM_000399.5

p.R350W

c.1048C>T

1 paper

NM_000399.5

p.R353C

c.1057C>T

9 papers

NM_000399.5

p.R353G

c.1057C>G

2 papers

NM_000399.5

p.D355N

c.1063G>A

12 papers

NM_000399.5

p.D355V

c.1064A>T