Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.H331H

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
1 paper
NM_000165.5
p.H331H
c.993T>C
Surrounding Variants
1 paper
NM_000165.5
p.A332T
c.994G>A
1 paper
NM_000165.5
p.S330F
c.989C>T
7 papers
NM_000165.5
p.S330A
c.988T>G
1 paper
NM_000165.5
p.S330fs
c.988_989fs
1 paper
NM_000165.5
p.P334L
c.1001C>T
4 papers
NM_000165.5
p.S328Y
c.983C>A
1 paper
NM_000165.5
p.F335L
c.1003T>C
3 papers
NM_000165.5
p.S328A
c.982T>G
1 paper
NM_000165.5
p.I327M
c.981C>G
1 paper
NM_000165.5
p.F335L
c.1005T>A
1 paper
NM_000165.5
p.F335L
c.1005T>G
1 paper
NM_000165.5
p.I327delFs
c.981delC
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."