Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.E13K

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
3 papers
NM_181703.4
p.E13K
c.37G>A
Surrounding Variants
1 paper
NM_181703.4
p.E12E
c.36G>A
2 papers
NM_181703.4
p.E13G
c.38A>G
1 paper
NM_181703.4
p.E12G
c.35A>G
1 paper
NM_181703.4
p.E13D
c.39A>C
2 papers
NM_181703.4
p.L11P
c.32T>C
1 paper
NM_181703.4
p.L11L
c.31C>T
2 papers
NM_181703.4
p.H15R
c.44A>G
2 papers
NM_181703.4
p.H15Q
c.45C>G
2 papers
NM_181703.4
p.H15Q
c.45C>A
2 papers
NM_181703.4
p.N9S
c.26A>G
1 paper
NM_181703.4
p.N9D
c.25A>G
1 paper
NM_181703.4
p.H17R
c.50A>G
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."