Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.V28L

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.V28L
c.82G>C
Surrounding Variants
8 papers
NM_005267.5
p.V28M
c.82G>A
1 paper
NM_005267.5
p.V28L
c.82G>T
1 paper
NM_005267.5
p.V28V
c.84G>A
1 paper
NM_005267.5
p.L29I
c.85C>A
4 papers
NM_005267.5
p.F30insFs
c.89dupT
2 papers
NM_005267.5
p.L26P
c.77T>C
3 papers
NM_005267.5
p.I31fs
c.91_92fs
4 papers
NM_005267.5
p.W25R
c.73T>A
4 papers
NM_005267.5
p.W25R
c.73T>C
18 papers
NM_005267.5
p.I31T
c.92T>C
4 papers
NM_005267.5
p.I31M
c.93C>G
1 paper
NM_005267.5
p.V24A
c.71T>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."