Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.P71H

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.P71H
c.212C>A
Surrounding Variants
1 paper
NM_021954.4
p.P71R
c.212C>G
3 papers
NM_021954.4
p.F70L
c.210C>G
3 papers
NM_021954.4
p.F70L
c.210C>A
3 papers
NM_021954.4
p.F70L
c.208T>C
2 papers
NM_021954.4
p.S73P
c.217T>C
7 papers
NM_021954.4
p.S73F
c.218C>T
1 paper
NM_021954.4
p.S73Y
c.218C>A
1 paper
NM_021954.4
p.A69T
c.205G>A
1 paper
NM_021954.4
p.R68K
c.203G>A
1 paper
NM_021954.4
p.H74L
c.221A>T
1 paper
NM_021954.4
p.H74P
c.221A>C
4 papers
NM_021954.4
p.D67G
c.200A>G
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