Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.Q331H

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
2 papers
NM_021954.4
p.Q331H
c.993G>T
Surrounding Variants
2 papers
NM_021954.4
p.Q331H
c.993G>C
2 papers
NM_021954.4
p.Q331*
c.991C>T
1 paper
NM_021954.4
p.A332V
c.995C>T
1 paper
NM_021954.4
p.A332E
c.995C>A
1 paper
NM_021954.4
p.A333V
c.998C>T
1 paper
NM_021954.4
p.E334K
c.1000G>A
1 paper
NM_021954.4
p.A329D
c.986C>A
1 paper
NM_021954.4
p.E334D
c.1002G>T
1 paper
NM_021954.4
p.E334D
c.1002G>C
1 paper
NM_021954.4
p.R335W
c.1003C>T
1 paper
NM_021954.4
p.W328R
c.982T>C
1 paper
NM_021954.4
p.W328R
c.982T>A
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