Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.W45L

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
13 papers
NM_005267.5
p.W45L
c.134G>T
Surrounding Variants
3 papers
NM_005267.5
p.W45*
c.134G>A
40 papers
NM_005267.5
p.W45S
c.134G>C
3 papers
NM_005267.5
p.W45*
c.135G>A
1 paper
NM_005267.5
p.W45C
c.135G>C
1 paper
NM_005267.5
p.W45C
c.135G>T
3 papers
NM_005267.5
p.W45R
c.133T>A
3 papers
NM_005267.5
p.W45R
c.133T>C
1 paper
NM_005267.5
p.W45fs
c.133_134fs
21 papers
NM_005267.5
p.G46R
c.136G>A
20 papers
NM_005267.5
p.G46R
c.136G>C
4 papers
NM_005267.5
p.G46E
c.137G>A
1 paper
NM_005267.5
p.G46A
c.137G>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."