Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.S279A

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
8 papers
NM_000165.5
p.S279A
c.835T>G
Surrounding Variants
1 paper
NM_000165.5
p.S279*
c.836C>A
2 papers
NM_000165.5
p.P280A
c.838C>G
2 papers
NM_000165.5
p.P280R
c.839C>G
1 paper
NM_000165.5
p.P280_M281insFs
c.840_841insA
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.A276V
c.827C>T
1 paper
NM_000165.5
p.A276T
c.826G>A
11 papers
NM_000165.5
p.S282A
c.844T>G
1 paper
NM_000165.5
p.S282Y
c.845C>A
1 paper
NM_000165.5
p.T275T
c.825C>T
20 papers
NM_000165.5
p.P283L
c.848C>T
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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."