Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.R76S

GJA5

275 papers

RefSeq Summary

This gene is 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 diffusion of...

Pfam Domains

Connexinaa 3–231UCSCConnexin
Connexin40_Caa 257–358UCSCConnexin 40 C-terminal domain

Gene Aliases

HGNC Name

gap junction protein alpha 5

HGNC Alias Symbol

CX40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_181703.4
p.R76S
c.226C>A
Surrounding Variants
1 paper
NM_181703.4
p.R76C
c.226C>T
4 papers
NM_181703.4
p.R76H
c.227G>A
6 papers
NM_181703.4
p.I75F
c.223A>T
2 papers
NM_181703.4
p.H74L
c.221A>T
1 paper
NM_181703.4
p.H74P
c.221A>C
1 paper
NM_181703.4
p.S73F
c.218C>T
1 paper
NM_181703.4
p.S73P
c.217T>C
1 paper
NM_181703.4
p.V79L
c.235G>T
1 paper
NM_181703.4
p.V79L
c.235G>C
1 paper
NM_181703.4
p.I72M
c.216C>G
3 papers
NM_181703.4
p.F70L
c.210C>G
2 papers
NM_181703.4
p.F70L
c.210C>A
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