Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.Y317Y

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.Y317Y
c.951T>C
Surrounding Variants
2 papers
NM_181703.4
p.R316H
c.947G>A
1 paper
NM_181703.4
p.K320E
c.958A>G
1 paper
NM_181703.4
p.N325H
c.973A>C
1 paper
NM_181703.4
p.V327delFs
c.981delG
1 paper
NM_181703.4
p.E305*
c.913G>T
1 paper
NM_181703.4
p.R302P
c.905G>C
1 paper
NM_181703.4
p.R302Q
c.905G>A
1 paper
NM_181703.4
p.L333F
c.997C>T
2 papers
NM_181703.4
p.R302*
c.904C>T
1 paper
NM_181703.4
p.N295S
c.884A>G
1 paper
NM_181703.4
p.D294D
c.882C>T
1 paper
NM_181703.4
p.T293_D294insFs
c.879_880insA
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."