Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.K379_E380insFs

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
2 papers
NM_005267.5
p.K379_E380insFs
c.1137_1138insC
Surrounding Variants
1 paper
NM_005267.5
p.K379_E380delFs
c.1136_1139del4
1 paper
NM_005267.5
p.V377A
c.1130T>C
1 paper
NM_005267.5
p.K383R
c.1148A>G
1 paper
NM_005267.5
p.G376R
c.1126G>A
1 paper
NM_005267.5
p.G376R
c.1126G>C
1 paper
NM_005267.5
p.G376fs
c.1126_1127fs
1 paper
NM_005267.5
p.P375P
c.1125C>T
1 paper
NM_005267.5
p.E385insFs
c.1153_1154insG
1 paper
NM_005267.5
p.T374T
c.1122C>T
1 paper
NM_005267.5
p.T374A
c.1120A>G
1 paper
NM_005267.5
p.P375delFs
c.1125delC
1 paper
NM_005267.5
p.T374fs
c.1120_1121fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."