Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.I247M

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
38 papers
NM_005267.5
p.I247M
c.741T>G
Surrounding Variants
1 paper
NM_005267.5
p.E249*
c.745G>T
1 paper
NM_005267.5
p.E246*
c.736G>T
1 paper
NM_005267.5
p.K250E
c.748A>G
1 paper
NM_005267.5
p.L252L
c.756C>A
1 paper
NM_005267.5
p.H253N
c.757C>A
1 paper
NM_005267.5
p.S254P
c.760T>C
1 paper
NM_005267.5
p.S254S
c.762C>A
1 paper
NM_005267.5
p.A256T
c.766G>A
1 paper
NM_005267.5
p.A256fs
c.766_767fs
1 paper
NM_005267.5
p.A256insFs
c.767_768insG
1 paper
NM_005267.5
p.V257I
c.769G>A
1 paper
NM_005267.5
p.V257L
c.769G>C
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."