Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.P59H

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.P59H
c.176C>A
Surrounding Variants
1 paper
NM_181703.4
p.P59S
c.175C>T
1 paper
NM_181703.4
p.P59A
c.175C>G
2 papers
NM_181703.4
p.Q58H
c.174G>T
1 paper
NM_181703.4
p.G60_C61insAGC
c.178_182ins9
2 papers
NM_181703.4
p.G60R
c.178G>C
2 papers
NM_181703.4
p.Q58H
c.174G>C
2 papers
NM_181703.4
p.G60S
c.178G>A
11 papers
NM_181703.4
p.Q58L
c.173A>T
1 paper
NM_181703.4
p.Q62R
c.185A>G
2 papers
NM_181703.4
p.D55N
c.163G>A
1 paper
NM_181703.4
p.V64G
c.191T>G
1 paper
NM_181703.4
p.V64A
c.191T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."