Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.R23I

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.R23I
c.68G>T
Surrounding Variants
3 papers
NM_005267.5
p.R23K
c.68G>A
48 papers
NM_005267.5
p.R23T
c.68G>C
3 papers
NM_005267.5
p.R23S
c.69A>T
1 paper
NM_005267.5
p.V24L
c.70G>C
1 paper
NM_005267.5
p.G22V
c.65G>T
1 paper
NM_005267.5
p.V24A
c.71T>C
5 papers
NM_005267.5
p.G22S
c.64G>A
41 papers
NM_005267.5
p.G22R
c.64G>C
1 paper
NM_005267.5
p.G22C
c.64G>T
4 papers
NM_005267.5
p.W25R
c.73T>A
4 papers
NM_005267.5
p.W25R
c.73T>C
2 papers
NM_005267.5
p.L26P
c.77T>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."