Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.S364A

GJA1

843 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 3–233UCSCConnexin
Connexin43aa 283–361UCSCGap junction alpha-1 protein (Cx43)

Gene Aliases

HGNC Name

gap junction protein alpha 1

HGNC Previous Symbols

ODDD; GJAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_000165.5
p.S364A
c.1090T>G
Surrounding Variants
14 papers
NM_000165.5
p.S364P
c.1090T>C
1 paper
NM_000165.5
p.P363S
c.1087C>T
3 papers
NM_000165.5
p.S365N
c.1094G>A
1 paper
NM_000165.5
p.S365T
c.1094G>C
11 papers
NM_000165.5
p.R362Q
c.1085G>A
1 paper
NM_000165.5
p.R362G
c.1084C>G
1 paper
NM_000165.5
p.Q361*
c.1081C>T
1 paper
NM_000165.5
p.A367T
c.1099G>A
1 paper
NM_000165.5
p.D360E
c.1080C>A
1 paper
NM_000165.5
p.S368T
c.1103G>C
1 paper
NM_000165.5
p.S369G
c.1105A>G
1 paper
NM_000165.5
p.V359M
c.1075G>A
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."