Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.E42Q

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.E42Q
c.124G>C
Surrounding Variants
2 papers
NM_005267.5
p.E42K
c.124G>A
1 paper
NM_005267.5
p.E42del1
c.124_125delGAG
1 paper
NM_005267.5
p.A41V
c.122C>T
1 paper
NM_005267.5
p.A41P
c.121G>C
3 papers
NM_005267.5
p.F43C
c.128T>G
2 papers
NM_005267.5
p.A40G
c.119C>G
12 papers
NM_005267.5
p.A40V
c.119C>T
18 papers
NM_005267.5
p.V44M
c.130G>A
1 paper
NM_005267.5
p.W45_E48delFs
c.133_142del10
1 paper
NM_005267.5
p.T39T
c.117G>A
1 paper
NM_005267.5
p.A40_A41del2
c.118_122del6
36 papers
NM_005267.5
p.V44E
c.131T>A
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