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.M64I

c.192G>T

Surrounding Variants

2 papers

NM_000399.5

p.M64I

c.192G>C

2 papers

NM_000399.5

p.M64I

c.192G>A

2 papers

NM_000399.5

p.T65A

c.193A>G

1 paper

NM_000399.5

p.T65I

c.194C>T

2 papers

NM_000399.5

p.I62V

c.184A>G

1 paper

NM_000399.5

p.E67D

c.201G>T

1 paper

NM_000399.5

p.E67D

c.201G>C

1 paper

NM_000399.5

p.R69K

c.206G>A

1 paper

NM_000399.5

p.R69S

c.207G>T

1 paper

NM_000399.5

p.M59I

c.177G>T

1 paper

NM_000399.5

p.R69S

c.207G>C

1 paper

NM_000399.5

p.M59I

c.177G>C