Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.V257I

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.V257I
c.769G>A
Surrounding Variants
1 paper
NM_005267.5
p.V257L
c.769G>C
1 paper
NM_005267.5
p.A256insFs
c.767_768insG
1 paper
NM_005267.5
p.A256T
c.766G>A
1 paper
NM_005267.5
p.A256fs
c.766_767fs
20 papers
NM_005267.5
p.S258F
c.773C>T
10 papers
NM_005267.5
p.S259Y
c.776C>A
1 paper
NM_005267.5
p.S254S
c.762C>A
7 papers
NM_005267.5
p.S259insFs
c.776_777insG
1 paper
NM_005267.5
p.I260fs
c.778_779fs
1 paper
NM_005267.5
p.S254P
c.760T>C
1 paper
NM_005267.5
p.H253N
c.757C>A
1 paper
NM_005267.5
p.Q261*
c.781C>T
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