Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.E302_K303del1

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.E302_K303del1
c.905_907delAGA
Surrounding Variants
1 paper
NM_005267.5
p.E301V
c.902A>T
2 papers
NM_005267.5
p.Q299K
c.895C>A
1 paper
NM_005267.5
p.Q299*
c.895C>T
1 paper
NM_005267.5
p.S305S
c.915C>T
1 paper
NM_005267.5
p.G307E
c.920G>A
2 papers
NM_005267.5
p.L309_G310insA
c.925_929ins3
1 paper
NM_005267.5
p.L309L
c.925C>T
1 paper
NM_005267.5
p.L309L
c.927G>T
2 papers
NM_005267.5
p.L292Q
c.875T>A
1 paper
NM_005267.5
p.P291insFs
c.872dupC
1 paper
NM_005267.5
p.S290G
c.868A>G
1 paper
NM_005267.5
p.R314Q
c.941G>A
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