Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.A16S

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.A16S
c.46G>T
Surrounding Variants
1 paper
NM_000165.5
p.Y17H
c.49T>C
45 papers
NM_000165.5
p.Y17S
c.50A>C
1 paper
NM_000165.5
p.Y17_G21delins
c.51_63delinsA
17 papers
NM_000165.5
p.S18P
c.52T>C
1 paper
NM_000165.5
p.S18L
c.53C>T
4 papers
NM_000165.5
p.K13E
c.37A>G
1 paper
NM_000165.5
p.D12delins
c.35_36delinsTA
1 paper
NM_000165.5
p.D12delins
c.35_36delinsTT
1 paper
NM_000165.5
p.A20T
c.58G>A
17 papers
NM_000165.5
p.L11P
c.32T>C
5 papers
NM_000165.5
p.L11I
c.31C>A
12 papers
NM_000165.5
p.L11F
c.31C>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."