Varaico: Literature-Extracted Genetic Variants

Gene:EGR3
Variant:p.M13L

EGR3

60 papers

RefSeq Summary

This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation....

Pfam Domains

DUF3446aa 87–173UCSCEarly growth response N-terminal domain
zf-C2H2aa 275–299UCSCZinc finger, C2H2 type
zf-C2H2aa 275–299UCSCZinc finger, C2H2 type
zf-C2H2aa 305–327UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

early growth response 3

HGNC Alias Symbol

PILOT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004430.3
p.M13L
c.37A>T
Surrounding Variants
1 paper
NM_004430.3
p.M13L
c.37A>C
1 paper
NM_004430.3
p.M13K
c.38T>A
1 paper
NM_004430.3
p.L20P
c.59T>C
3 papers
NM_004430.3
p.G3D
c.8G>A
1 paper
NM_004430.3
p.L33P
c.98T>C
2 papers
NM_004430.3
p.N34N
c.102C>T
1 paper
NM_004430.3
p.L35F
c.103C>T
1 paper
NM_004430.3
p.V44A
c.131T>C
1 paper
NM_004430.3
p.M49I
c.147G>C
1 paper
NM_004430.3
p.E52Splc
c.155-272C>T
1 paper
NM_004430.3
p.P64S
c.190C>T
1 paper
NM_004430.3
p.G72D
c.215G>A
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