Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.F32L

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
18 papers
NM_021954.4
p.F32L
c.96C>A
Surrounding Variants
19 papers
NM_021954.4
p.F32L
c.96C>G
3 papers
NM_021954.4
p.R33C
c.97C>T
19 papers
NM_021954.4
p.F32L
c.94T>C
2 papers
NM_021954.4
p.F32I
c.94T>A
20 papers
NM_021954.4
p.R33L
c.98G>T
1 paper
NM_021954.4
p.R33P
c.98G>C
1 paper
NM_021954.4
p.R33H
c.98G>A
2 papers
NM_021954.4
p.I31M
c.93C>G
5 papers
NM_021954.4
p.I31T
c.92T>C
6 papers
NM_021954.4
p.I31N
c.92T>A
1 paper
NM_021954.4
p.I34T
c.101T>C
1 paper
NM_021954.4
p.I31fs
c.91_92fs
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