Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.R101L

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
6 papers
NM_005267.5
p.R101L
c.302G>T
Surrounding Variants
3 papers
NM_005267.5
p.R101C
c.301C>T
1 paper
NM_005267.5
p.M102K
c.305T>A
2 papers
NM_005267.5
p.E103_E104insFs
c.309_310insA
1 paper
NM_005267.5
p.E104K
c.310G>A
8 papers
NM_005267.5
p.H98P
c.293A>C
6 papers
NM_005267.5
p.H98R
c.293A>G
1 paper
NM_005267.5
p.E104E
c.312G>A
1 paper
NM_005267.5
p.R106_A111del6
c.316_332del18
4 papers
NM_005267.5
p.V97G
c.290T>G
2 papers
NM_005267.5
p.R106C
c.316C>T
1 paper
NM_005267.5
p.A96V
c.287C>T
2 papers
NM_005267.5
p.R106H
c.317G>A
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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."