Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.F161S

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.F161S
c.482T>C
Surrounding Variants
1 paper
NM_000165.5
p.F161I
c.481T>A
1 paper
NM_000165.5
p.K162*
c.484A>T
1 paper
NM_000165.5
p.K162R
c.485A>G
1 paper
NM_000165.5
p.E166G
c.497A>G
1 paper
NM_000165.5
p.E166D
c.498G>C
1 paper
NM_000165.5
p.E166D
c.498G>T
2 papers
NM_000165.5
p.V167M
c.499G>A
1 paper
NM_000165.5
p.V167G
c.500T>G
1 paper
NM_000165.5
p.Y155H
c.463T>C
2 papers
NM_000165.5
p.A168T
c.502G>A
1 paper
NM_000165.5
p.A168_F169insT
c.502_506ins3
7 papers
NM_000165.5
p.T154N
c.461C>A
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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."