Varaico: Literature-Extracted Genetic Variants

Gene:EGR2

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 370–392UCSCZinc finger, C2H2 type
zf-C2H2aa 398–420UCSCZinc 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
1–12 of 249 variants
38 papers
NM_000399.5
p.R359W
c.1075C>T
35 papers
NM_000399.5
p.I268N
c.803T>A
32 papers
NM_000399.5
p.R381H
c.1142G>A
25 papers
NM_000399.5
p.R409W
c.1225C>T
24 papers
NM_000399.5
p.S382R
c.1144A>C
24 papers
NM_000399.5
p.S382R
c.1146T>G
24 papers
NM_000399.5
p.S382R
c.1146T>A
24 papers
NM_000399.5
p.D383Y
c.1147G>T
18 papers
NM_000399.5
p.R381C
c.1141C>T
17 papers
NM_000399.5
p.E356K
c.1066G>A
17 papers
NM_000399.5
p.H384N
c.1150C>A
14 papers
NM_000399.5
p.R359Q
c.1076G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."