Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.A96S

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
39 papers
NM_181703.4
p.A96S
c.286G>T
Surrounding Variants
3 papers
NM_181703.4
p.H95R
c.284A>G
1 paper
NM_181703.4
p.H95insFs
c.283dupC
1 paper
NM_181703.4
p.A96delFs
c.287delG
1 paper
NM_181703.4
p.M93I
c.279G>T
1 paper
NM_181703.4
p.M93I
c.279G>C
1 paper
NM_181703.4
p.M93I
c.279G>A
1 paper
NM_181703.4
p.H98R
c.293A>G
1 paper
NM_181703.4
p.H98P
c.293A>C
1 paper
NM_181703.4
p.R101L
c.302G>T
1 paper
NM_181703.4
p.L90P
c.269T>C
4 papers
NM_181703.4
p.L90V
c.268C>G
1 paper
NM_181703.4
p.S89T
c.265T>A
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