Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.V123insFs

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.V123insFs
c.368_369insT
Surrounding Variants
1 paper
NM_002060.3
p.V123V
c.369G>A
1 paper
NM_002060.3
p.R125Q
c.374G>A
6 papers
NM_002060.3
p.V130I
c.388G>A
4 papers
NM_002060.3
p.R132C
c.394C>T
1 paper
NM_002060.3
p.R114W
c.340C>T
2 papers
NM_002060.3
p.L113P
c.338T>C
1 paper
NM_002060.3
p.E112G
c.335A>G
1 paper
NM_002060.3
p.M134I
c.402G>A
1 paper
NM_002060.3
p.E110D
c.330G>C
1 paper
NM_002060.3
p.E110D
c.330G>T
1 paper
NM_002060.3
p.V139M
c.415G>A
1 paper
NM_002060.3
p.L106P
c.317T>C
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