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.A301ins1

c.902_903insGCA

Surrounding Variants

1 paper

NM_000399.5

p.G296_A301del6

c.886_902del18

1 paper

NM_000399.5

p.A302_A303delFs

c.906_907delCT

2 papers

NM_000399.5

p.A302_A304ins1

c.906_911dup6

1 paper

NM_000399.5

p.A303_A304del1

c.909_911delGCT

1 paper

NM_000399.5

p.S297N

c.890G>A

1 paper

NM_000399.5

p.A303_A304del2

c.907_911del6

1 paper

NM_000399.5

p.A307T

c.919G>A

1 paper

NM_000399.5

p.A308T

c.922G>A

1 paper

NM_000399.5

p.L294M

c.880C>A

1 paper

NM_000399.5

p.A309T

c.925G>A

3 papers

NM_000399.5

p.A309del1

c.925_926delGGC

1 paper

NM_000399.5

p.Y310C

c.929A>G