Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.G143S

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
37 papers
NM_000165.5
p.G143S
c.427G>A
Surrounding Variants
3 papers
NM_000165.5
p.G143R
c.427G>C
5 papers
NM_000165.5
p.G143D
c.428G>A
1 paper
NM_000165.5
p.G143_M147del5
c.427_440del15
4 papers
NM_000165.5
p.K144E
c.430A>G
1 paper
NM_000165.5
p.K144*
c.430A>T
1 paper
NM_000165.5
p.K144R
c.431A>G
1 paper
NM_000165.5
p.K144K
c.432G>A
1 paper
NM_000165.5
p.V145M
c.433G>A
5 papers
NM_000165.5
p.V145G
c.434T>G
2 papers
NM_000165.5
p.I139N
c.416T>A
1 paper
NM_000165.5
p.I139T
c.416T>C
1 paper
NM_000165.5
p.M147L
c.439A>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."