Varaico: Literature-Extracted Genetic Variants

Gene:GJA5

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
1–12 of 207 variants
39 papers
NM_181703.4
p.A96S
c.286G>T
22 papers
NM_181703.4
p.G38D
c.113G>A
19 papers
NM_181703.4
p.P88S
c.262C>T
15 papers
NM_181703.4
p.M163V
c.487A>G
12 papers
NM_181703.4
p.V85I
c.253G>A
12 papers
NM_181703.4
p.L229M
c.685C>A
11 papers
NM_181703.4
p.Q58L
c.173A>T
11 papers
NM_181703.4
p.L221I
c.661C>A
10 papers
NM_181703.4
p.Q49*
c.145C>T
8 papers
NM_181703.4
p.P265S
c.793C>T
7 papers
NM_181703.4
p.A40V
c.119C>T
6 papers
NM_181703.4
p.I75F
c.223A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."