Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.P120L

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.P120L
c.359C>T
Surrounding Variants
1 paper
NM_021954.4
p.P120S
c.358C>T
2 papers
NM_021954.4
p.S119R
c.357C>G
2 papers
NM_021954.4
p.S119R
c.357C>A
2 papers
NM_021954.4
p.S119R
c.355A>C
1 paper
NM_021954.4
p.E118G
c.353A>G
1 paper
NM_021954.4
p.E118K
c.352G>A
1 paper
NM_021954.4
p.K123M
c.368A>T
1 paper
NM_021954.4
p.K123R
c.368A>G
1 paper
NM_021954.4
p.K116delFs
c.348delC
1 paper
NM_021954.4
p.E124V
c.371A>T
1 paper
NM_021954.4
p.E124D
c.372G>T
1 paper
NM_021954.4
p.E124D
c.372G>C
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