Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.W45*

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
2 papers
NM_000165.5
p.W45*
c.135G>A
Surrounding Variants
4 papers
NM_000165.5
p.G46R
c.136G>A
2 papers
NM_000165.5
p.W45*
c.134G>A
4 papers
NM_000165.5
p.W45S
c.134G>C
3 papers
NM_000165.5
p.G46R
c.136G>C
1 paper
NM_000165.5
p.G46E
c.137G>A
4 papers
NM_000165.5
p.G46V
c.137G>T
16 papers
NM_000165.5
p.A44V
c.131C>T
7 papers
NM_000165.5
p.D47N
c.139G>A
3 papers
NM_000165.5
p.D47H
c.139G>C
2 papers
NM_000165.5
p.D47Y
c.139G>T
2 papers
NM_000165.5
p.D47A
c.140A>C
1 paper
NM_000165.5
p.A44T
c.130G>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."