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

2 papers

NM_000399.5

p.S117insFs

c.349_350insT

Surrounding Variants

1 paper

NM_000399.5

p.V116V

c.348G>A

1 paper

NM_000399.5

p.V116G

c.347T>G

1 paper

NM_000399.5

p.I112T

c.335T>C

1 paper

NM_000399.5

p.Q122E

c.364C>G

1 paper

NM_000399.5

p.G111G

c.333C>T

2 papers

NM_000399.5

p.G123E

c.368G>A

1 paper

NM_000399.5

p.V124L

c.370G>C

1 paper

NM_000399.5

p.G104D

c.311G>A

2 papers

NM_000399.5

p.P103delFs

c.309delA

1 paper

NM_000399.5

p.T130S

c.389C>G

1 paper

NM_000399.5

p.Q101_Y102delFs

c.303_304delAC

1 paper

NM_000399.5

p.D99_Q101del0

c.296_301del6