Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.P270S

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.P270S
c.808C>T
Surrounding Variants
1 paper
NM_021954.4
p.P270L
c.809C>T
1 paper
NM_021954.4
p.P269S
c.805C>T
1 paper
NM_021954.4
p.Y271C
c.812A>G
1 paper
NM_021954.4
p.Y272D
c.814T>G
1 paper
NM_021954.4
p.Y272C
c.815A>G
1 paper
NM_021954.4
p.A273ins1
c.817_818insATG
1 paper
NM_021954.4
p.G267R
c.799G>C
1 paper
NM_021954.4
p.A273T
c.817G>A
1 paper
NM_021954.4
p.G267R
c.799G>A
1 paper
NM_021954.4
p.A273A
c.819G>C
1 paper
NM_021954.4
p.A265T
c.793G>A
1 paper
NM_021954.4
p.T275A
c.823A>G
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