Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.H74L

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.H74L
c.221A>T
Surrounding Variants
1 paper
NM_002060.3
p.R76S
c.226C>A
3 papers
NM_002060.3
p.R76H
c.227G>A
1 paper
NM_002060.3
p.Q68*
c.202C>T
1 paper
NM_002060.3
p.L83V
c.247C>G
2 papers
NM_002060.3
p.V64V
c.192C>A
1 paper
NM_002060.3
p.V64A
c.191T>C
2 papers
NM_002060.3
p.V85I
c.253G>A
1 paper
NM_002060.3
p.T62T
c.186C>A
1 paper
NM_002060.3
p.P88L
c.263C>T
2 papers
NM_002060.3
p.P59S
c.175C>T
2 papers
NM_002060.3
p.L90V
c.268C>G
1 paper
NM_002060.3
p.Q58H
c.174G>C
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