Varaico: Literature-Extracted Genetic Variants

Gene:GJA3

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
1–12 of 705 variants
38 papers
NM_021954.4
p.N63S
c.188A>G
32 papers
NM_021954.4
p.P59L
c.176C>T
27 papers
NM_021954.4
p.L11S
c.32T>C
27 papers
NM_021954.4
p.P187L
c.560C>T
26 papers
NM_021954.4
p.D47N
c.139G>A
26 papers
NM_021954.4
p.G143R
c.427G>C
26 papers
NM_021954.4
p.G143R
c.427G>A
25 papers
NM_021954.4
p.D3Y
c.7G>T
24 papers
NM_021954.4
p.V44M
c.130G>A
24 papers
NM_021954.4
p.N188T
c.563A>C
23 papers
NM_021954.4
p.R76H
c.227G>A
20 papers
NM_021954.4
p.V28M
c.82G>A
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