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.K247R

c.740A>G

Surrounding Variants

1 paper

NM_000399.5

p.R246C

c.736C>T

1 paper

NM_000399.5

p.L253_D254insFs

c.759_760insA

1 paper

NM_000399.5

p.G240D

c.719G>A

2 papers

NM_000399.5

p.H239Y

c.715C>T

1 paper

NM_000399.5

p.L238P

c.713T>C

1 paper

NM_000399.5

p.P250_P259del10

c.748_776del30

1 paper

NM_000399.5

p.T263I

c.788C>T

1 paper

NM_000399.5

p.P264A

c.790C>G

1 paper

NM_000399.5

p.P264L

c.791C>T

1 paper

NM_000399.5

p.T263_P264del2

c.787_791del6

1 paper

NM_000399.5

p.G228A

c.683G>C

1 paper

NM_000399.5

p.P227insFs

c.679_680insT