Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.T203fs

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.T203fs
c.607_608fs
Surrounding Variants
1 paper
NM_005267.5
p.T203P
c.607A>C
1 paper
NM_005267.5
p.T203A
c.607A>G
2 papers
NM_005267.5
p.T203fs
c.607_608fs
1 paper
NM_005267.5
p.T203insFs
c.608_609insA
2 papers
NM_005267.5
p.T203insFs
c.607dupA
1 paper
NM_005267.5
p.E201G
c.602A>G
14 papers
NM_005267.5
p.E201K
c.601G>A
1 paper
NM_005267.5
p.T200T
c.600G>A
11 papers
NM_005267.5
p.P199S
c.595C>T
29 papers
NM_005267.5
p.R198Q
c.593G>A
1 paper
NM_005267.5
p.R198G
c.592C>G
25 papers
NM_005267.5
p.R198W
c.592C>T
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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."