Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.R76L

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
1 paper
NM_005267.5
p.R76L
c.227G>T
Surrounding Variants
20 papers
NM_005267.5
p.R76H
c.227G>A
2 papers
NM_005267.5
p.R76S
c.226C>A
10 papers
NM_005267.5
p.R76G
c.226C>G
11 papers
NM_005267.5
p.R76C
c.226C>T
1 paper
NM_005267.5
p.R76delFs
c.226_227delCG
2 papers
NM_005267.5
p.I75T
c.224T>C
1 paper
NM_005267.5
p.L77L
c.231C>T
1 paper
NM_005267.5
p.H74P
c.221A>C
2 papers
NM_005267.5
p.H74L
c.221A>T
3 papers
NM_005267.5
p.W78*
c.233G>A
1 paper
NM_005267.5
p.W78L
c.233G>T
33 papers
NM_005267.5
p.V79L
c.235G>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."