Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.Q58H

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.Q58H
c.174A>T
Surrounding Variants
6 papers
NM_000165.5
p.Q58H
c.174A>C
1 paper
NM_000165.5
p.Q58L
c.173A>T
4 papers
NM_000165.5
p.P59A
c.175C>G
5 papers
NM_000165.5
p.P59S
c.175C>T
11 papers
NM_000165.5
p.P59H
c.176C>A
2 papers
NM_000165.5
p.P59L
c.176C>T
1 paper
NM_000165.5
p.Q57L
c.170A>T
74 papers
NM_000165.5
p.G60S
c.178G>A
3 papers
NM_000165.5
p.G60R
c.178G>C
2 papers
NM_000165.5
p.Q57*
c.169C>T
1 paper
NM_000165.5
p.G60D
c.179G>A
1 paper
NM_000165.5
p.T56_Q57insFs
c.168_169insT
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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."