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.G150C

c.448G>T

Surrounding Variants

2 papers

NM_000399.5

p.G150D

c.449G>A

1 paper

NM_000399.5

p.P148L

c.443C>T

1 paper

NM_000399.5

p.A145A

c.435C>A

1 paper

NM_000399.5

p.S155P

c.463T>C

1 paper

NM_000399.5

p.T157P

c.469A>C

1 paper

NM_000399.5

p.Q158K

c.472C>A

1 paper

NM_000399.5

p.S140C

c.419C>G

1 paper

NM_000399.5

p.S134_T137del4

c.400_410del12

1 paper

NM_000399.5

p.S134_T137delFs

c.400_409del10

1 paper

NM_000399.5

p.H163Y

c.487C>T

1 paper

NM_000399.5

p.V136I

c.406G>A

1 paper

NM_000399.5

p.S135insFs

c.403_404insT