Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.P338S

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.P338S
c.1012C>T
Surrounding Variants
1 paper
NM_000165.5
p.F337L
c.1011C>A
1 paper
NM_000165.5
p.F337L
c.1011C>G
1 paper
NM_000165.5
p.F337L
c.1009T>C
1 paper
NM_000165.5
p.F335L
c.1005T>A
1 paper
NM_000165.5
p.F335L
c.1005T>G
1 paper
NM_000165.5
p.F335L
c.1003T>C
2 papers
NM_000165.5
p.N341S
c.1022A>G
1 paper
NM_000165.5
p.P334L
c.1001C>T
1 paper
NM_000165.5
p.Q342R
c.1025A>G
1 paper
NM_000165.5
p.A332T
c.994G>A
1 paper
NM_000165.5
p.S344P
c.1030T>C
1 paper
NM_000165.5
p.H331H
c.993T>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."