Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.P407S

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.P407S
c.1219C>T
Surrounding Variants
1 paper
NM_021954.4
p.P407L
c.1220C>T
1 paper
NM_021954.4
p.P408S
c.1222C>T
1 paper
NM_021954.4
p.H405P
c.1214A>C
1 paper
NM_021954.4
p.H405Y
c.1213C>T
1 paper
NM_021954.4
p.M404R
c.1211T>G
1 paper
NM_021954.4
p.Q403*
c.1207C>T
1 paper
NM_021954.4
p.Q403E
c.1207C>G
1 paper
NM_021954.4
p.L411R
c.1232T>G
1 paper
NM_021954.4
p.G412*
c.1234G>T
1 paper
NM_021954.4
p.G412R
c.1234G>C
1 paper
NM_021954.4
p.G412R
c.1234G>A
1 paper
NM_021954.4
p.A402T
c.1204G>A
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