Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.C271S

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.C271S
c.811T>A
Surrounding Variants
3 papers
NM_000165.5
p.C271S
c.812G>C
13 papers
NM_000165.5
p.S272P
c.814T>C
1 paper
NM_000165.5
p.P274A
c.820C>G
1 paper
NM_000165.5
p.Y267F
c.800A>T
1 paper
NM_000165.5
p.T275T
c.825C>T
1 paper
NM_000165.5
p.A276T
c.826G>A
1 paper
NM_000165.5
p.A276V
c.827C>T
8 papers
NM_000165.5
p.Y265F
c.794A>T
1 paper
NM_000165.5
p.P277A
c.829C>G
1 paper
NM_000165.5
p.P277S
c.829C>T
1 paper
NM_000165.5
p.Y265D
c.793T>G
1 paper
NM_000165.5
p.K264T
c.791A>C
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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."