Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.I31M

GJA4

194 papers

RefSeq Summary

This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusi...

Pfam Domains

Connexinaa 3–233UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein alpha 4

HGNC Alias Symbol

CX37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002060.3
p.I31M
c.93C>G
Surrounding Variants
1 paper
NM_002060.3
p.R33delFs
c.97delC
1 paper
NM_002060.3
p.R33fs
c.97_98fs
1 paper
NM_002060.3
p.R33H
c.98G>A
1 paper
NM_002060.3
p.L26P
c.77T>C
2 papers
NM_002060.3
p.K23T
c.68A>C
2 papers
NM_002060.3
p.A40G
c.119C>G
7 papers
NM_002060.3
p.A40V
c.119C>T
13 papers
NM_002060.3
p.G41C
c.121G>T
1 paper
NM_002060.3
p.E42del1
c.124_125delGAG
2 papers
NM_002060.3
p.E42K
c.124G>A
1 paper
NM_002060.3
p.V20M
c.58G>A
1 paper
NM_002060.3
p.T19S
c.56C>G
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