Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.E141A

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
1 paper
NM_002060.3
p.E141A
c.422A>C
Surrounding Variants
5 papers
NM_002060.3
p.G143S
c.427G>A
1 paper
NM_002060.3
p.G143D
c.428G>A
1 paper
NM_002060.3
p.V139M
c.415G>A
1 paper
NM_002060.3
p.R144insFs
c.430_431insGA
1 paper
NM_002060.3
p.R148G
c.442C>G
1 paper
NM_002060.3
p.M134I
c.402G>A
4 papers
NM_002060.3
p.R132C
c.394C>T
6 papers
NM_002060.3
p.V130I
c.388G>A
7 papers
NM_002060.3
p.T154A
c.460A>G
2 papers
NM_002060.3
p.V156D
c.467T>A
1 paper
NM_002060.3
p.R125Q
c.374G>A
1 paper
NM_002060.3
p.V123V
c.369G>A
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