Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.A44S

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.A44S
c.130G>T
Surrounding Variants
1 paper
NM_000165.5
p.A44T
c.130G>A
16 papers
NM_000165.5
p.A44V
c.131C>T
1 paper
NM_000165.5
p.S43T
c.127T>A
2 papers
NM_000165.5
p.W45*
c.134G>A
4 papers
NM_000165.5
p.W45S
c.134G>C
1 paper
NM_000165.5
p.E42D
c.126G>T
1 paper
NM_000165.5
p.E42G
c.125A>G
1 paper
NM_000165.5
p.E42_W45del0
c.126_134del9
2 papers
NM_000165.5
p.W45*
c.135G>A
20 papers
NM_000165.5
p.E42K
c.124G>A
4 papers
NM_000165.5
p.G46R
c.136G>A
6 papers
NM_000165.5
p.E42Q
c.124G>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."