Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.D43E

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.D43E
c.129C>G
Surrounding Variants
1 paper
NM_021954.4
p.D43E
c.129C>A
1 paper
NM_021954.4
p.E42del1
c.124_125delCTC
1 paper
NM_021954.4
p.V44L
c.130G>T
1 paper
NM_021954.4
p.V44L
c.130G>C
24 papers
NM_021954.4
p.V44M
c.130G>A
2 papers
NM_021954.4
p.D43V
c.128A>T
2 papers
NM_021954.4
p.V44A
c.131T>C
6 papers
NM_021954.4
p.V44E
c.131T>A
1 paper
NM_021954.4
p.D43Y
c.127G>T
6 papers
NM_021954.4
p.E42A
c.125A>C
2 papers
NM_021954.4
p.W45L
c.134G>T
20 papers
NM_021954.4
p.W45S
c.134G>C
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