Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.M163V

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
15 papers
NM_181703.4
p.M163V
c.487A>G
Surrounding Variants
1 paper
NM_181703.4
p.M163L
c.487A>T
1 paper
NM_181703.4
p.M163L
c.487A>C
1 paper
NM_181703.4
p.R160H
c.479G>A
1 paper
NM_181703.4
p.Q171insFs
c.512dupA
1 paper
NM_181703.4
p.L150delFs
c.448_449delAG
1 paper
NM_181703.4
p.Y175*
c.525C>G
1 paper
NM_181703.4
p.Y175*
c.525C>A
1 paper
NM_181703.4
p.I177I
c.531C>T
1 paper
NM_181703.4
p.T148I
c.443C>T
1 paper
NM_181703.4
p.L145fs
c.433_434fs
1 paper
NM_181703.4
p.L145delFs
c.433delG
1 paper
NM_181703.4
p.T181I
c.542C>T
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