Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.S5C

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.S5C
c.13A>T
Surrounding Variants
2 papers
NM_000165.5
p.W4*
c.12G>A
3 papers
NM_000165.5
p.W4C
c.12G>C
1 paper
NM_000165.5
p.W4C
c.12G>T
2 papers
NM_000165.5
p.S5S
c.15C>T
1 paper
NM_000165.5
p.A6T
c.16G>A
2 papers
NM_000165.5
p.W4R
c.10T>A
4 papers
NM_000165.5
p.W4R
c.10T>C
1 paper
NM_000165.5
p.D3E
c.9C>A
1 paper
NM_000165.5
p.D3E
c.9C>G
20 papers
NM_000165.5
p.D3N
c.7G>A
3 papers
NM_000165.5
p.D3Y
c.7G>T
1 paper
NM_000165.5
p.D3fs
c.7_8fs
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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."