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.A84_N87delFs

c.250_259del10

Surrounding Variants

1 paper

NM_000399.5

p.A84_N87del4

c.250_260del12

1 paper

NM_000399.5

p.Q88delFs

c.263_264delCT

1 paper

NM_000399.5

p.F90Y

c.269T>A

1 paper

NM_000399.5

p.M93V

c.277A>G

1 paper

NM_000399.5

p.P81R

c.242C>G

1 paper

NM_001136179.3

p.P31A

c.91C>G

3 papers

NM_000399.5

p.G94D

c.281G>A

1 paper

NM_000399.5

p.F96Y

c.287T>A

1 paper

NM_000399.5

p.S78G

c.232A>G

1 paper

NM_000399.5

p.S97C

c.290C>G

1 paper

NM_000399.5

p.S77G

c.229A>G

1 paper

NM_000399.5

p.Y75fs

c.223_224fs