Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.V20I

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.V20I
c.58G>A
Surrounding Variants
1 paper
NM_005267.5
p.I21_F32del12
c.61_95del36
1 paper
NM_005267.5
p.T19T
c.57C>T
1 paper
NM_005267.5
p.I21_V24del4
c.61_71del12
1 paper
NM_005267.5
p.V20_I21ins1
c.60_61insAGC
2 papers
NM_005267.5
p.T19I
c.56C>T
3 papers
NM_005267.5
p.S18F
c.53C>T
5 papers
NM_005267.5
p.G22S
c.64G>A
41 papers
NM_005267.5
p.G22R
c.64G>C
1 paper
NM_005267.5
p.G22C
c.64G>T
3 papers
NM_005267.5
p.S18P
c.52T>C
1 paper
NM_005267.5
p.G22V
c.65G>T
1 paper
NM_005267.5
p.H17P
c.50A>C
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