Varaico: Literature-Extracted Genetic Variants

Gene:GJA8

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
1–12 of 458 variants
71 papers
NM_005267.5
p.P88S
c.262C>T
52 papers
NM_005267.5
p.E48K
c.142G>A
48 papers
NM_005267.5
p.R23T
c.68G>C
48 papers
NM_005267.5
p.D47N
c.139G>A
42 papers
NM_005267.5
p.D47A
c.140A>C
41 papers
NM_005267.5
p.G22R
c.64G>C
40 papers
NM_005267.5
p.W45S
c.134G>C
39 papers
NM_005267.5
p.P88Q
c.263C>A
38 papers
NM_005267.5
p.I247M
c.741T>G
36 papers
NM_005267.5
p.V44E
c.131T>A
35 papers
NM_005267.5
p.S276F
c.827C>T
33 papers
NM_005267.5
p.S50P
c.148T>C
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