Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.S201F

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
6 papers
NM_000165.5
p.S201F
c.602C>T
Surrounding Variants
3 papers
NM_000165.5
p.S201Y
c.602C>A
1 paper
NM_000165.5
p.R202C
c.604C>T
1 paper
NM_000165.5
p.S201delFs
c.601delT
33 papers
NM_000165.5
p.R202H
c.605G>A
1 paper
NM_000165.5
p.R202L
c.605G>T
3 papers
NM_000165.5
p.F199L
c.597C>A
3 papers
NM_000165.5
p.F199L
c.597C>G
3 papers
NM_000165.5
p.F199L
c.595T>C
1 paper
NM_000165.5
p.T204A
c.610A>G
1 paper
NM_000165.5
p.C198Y
c.593G>A
1 paper
NM_000165.5
p.T204T
c.612G>A
1 paper
NM_000165.5
p.C198_L200Fs
c.592_600delinsCAGTGTTCATGACATTCFs
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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."