Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.L148L

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.L148L
c.442C>T
Surrounding Variants
1 paper
NM_005267.5
p.T146T
c.438C>G
5 papers
NM_005267.5
p.G145W
c.433G>T
1 paper
NM_005267.5
p.G145_L148delFs
c.434_443del10
1 paper
NM_005267.5
p.I152L
c.454A>C
1 paper
NM_005267.5
p.I152I
c.456C>T
4 papers
NM_005267.5
p.L143_L147del5
c.427_440del15
4 papers
NM_005267.5
p.H154D
c.460C>G
3 papers
NM_005267.5
p.R142W
c.424C>T
1 paper
NM_005267.5
p.I156V
c.466A>G
2 papers
NM_005267.5
p.T138S
c.413C>G
1 paper
NM_005267.5
p.T138S
c.412A>T
1 paper
NM_005267.5
p.G137A
c.410G>C
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