Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.R186C

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
1 paper
NM_181703.4
p.R186C
c.556C>T
Surrounding Variants
1 paper
NM_181703.4
p.P189S
c.565C>T
3 papers
NM_181703.4
p.P189L
c.566C>T
1 paper
NM_181703.4
p.T181I
c.542C>T
3 papers
NM_181703.4
p.P193L
c.578C>T
2 papers
NM_181703.4
p.P193Q
c.578C>A
1 paper
NM_181703.4
p.V194A
c.581T>C
1 paper
NM_181703.4
p.I177I
c.531C>T
1 paper
NM_181703.4
p.N195D
c.583A>G
1 paper
NM_181703.4
p.C196G
c.586T>G
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.Y197*
c.591C>G
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