Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.D47N

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
26 papers
NM_021954.4
p.D47N
c.139G>A
Surrounding Variants
6 papers
NM_021954.4
p.D47Y
c.139G>T
2 papers
NM_021954.4
p.D47H
c.139G>C
4 papers
NM_021954.4
p.D47A
c.140A>C
9 papers
NM_021954.4
p.G46V
c.137G>T
1 paper
NM_021954.4
p.G46A
c.137G>C
1 paper
NM_021954.4
p.G46D
c.137G>A
2 papers
NM_021954.4
p.G46C
c.136G>T
4 papers
NM_021954.4
p.G46R
c.136G>C
2 papers
NM_021954.4
p.E48Q
c.142G>C
10 papers
NM_021954.4
p.E48K
c.142G>A
1 paper
NM_021954.4
p.G46S
c.136G>A
1 paper
NM_021954.4
p.W45C
c.135G>T
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