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.P213insFs

c.638dupC

Surrounding Variants

1 paper

NM_000399.5

p.P213L

c.638C>T

1 paper

NM_000399.5

p.T215M

c.644C>T

1 paper

NM_000399.5

p.K212Q

c.634A>C

1 paper

NM_000399.5

p.S210F

c.629C>T

1 paper

NM_000399.5

p.P209L

c.626C>T

1 paper

NM_000399.5

p.S207delFs

c.621delG

1 paper

NM_000399.5

p.P221S

c.661C>T

1 paper

NM_000399.5

p.I223N

c.668T>A

1 paper

NM_001136179.3

p.I173_P174ins1

c.519_520insTCC

2 papers

NM_000399.5

p.P224T

c.670C>A

1 paper

NM_000399.5

p.P227insFs

c.679_680insT

1 paper

NM_000399.5

p.G228A

c.683G>C