Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.P59A

GJA8

505 papers

RefSeq Summary

This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a ...

Pfam Domains

Connexinaa 3–229UCSCConnexin
Connexin50aa 260–326UCSCGap junction alpha-8 protein (Cx50)

Gene Aliases

HGNC Name

gap junction protein alpha 8

HGNC Previous Symbols

CAE1; CZP1; CAE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_005267.5
p.P59A
c.175C>G
Surrounding Variants
1 paper
NM_005267.5
p.P59T
c.175C>A
1 paper
NM_005267.5
p.P59H
c.176C>A
11 papers
NM_005267.5
p.P59L
c.176C>T
2 papers
NM_005267.5
p.Q58H
c.174G>C
2 papers
NM_005267.5
p.Q58H
c.174G>T
4 papers
NM_005267.5
p.G60S
c.178G>A
3 papers
NM_005267.5
p.G60R
c.178G>C
1 paper
NM_005267.5
p.G60_C61insAGC
c.178_182ins9
1 paper
NM_005267.5
p.Q57Q
c.171G>A
1 paper
NM_005267.5
p.G60D
c.179G>A
1 paper
NM_005267.5
p.C61Y
c.182G>A
4 papers
NM_005267.5
p.T56P
c.166A>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."