Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.I82N

GJA3

378 papers

RefSeq Summary

The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan ...

Pfam Domains

Connexinaa 3–227UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein alpha 3

HGNC Previous Symbol

CZP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021954.4
p.I82N
c.245T>A
Surrounding Variants
1 paper
NM_021954.4
p.Q81P
c.242A>C
1 paper
NM_021954.4
p.L80P
c.239T>C
1 paper
NM_021954.4
p.L80Q
c.239T>A
1 paper
NM_021954.4
p.V85L
c.253G>T
1 paper
NM_021954.4
p.V85L
c.253G>C
3 papers
NM_021954.4
p.V85M
c.253G>A
1 paper
NM_021954.4
p.A79V
c.236C>T
2 papers
NM_021954.4
p.A79P
c.235G>C
1 paper
NM_021954.4
p.A79T
c.235G>A
1 paper
NM_021954.4
p.S86C
c.257C>G
1 paper
NM_021954.4
p.S86Y
c.257C>A
1 paper
NM_021954.4
p.S86delFs
c.256delA
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