Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.A211V

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.A211V
c.632C>T
Surrounding Variants
1 paper
NM_021954.4
p.A211T
c.631G>A
1 paper
NM_021954.4
p.C212G
c.634T>G
1 paper
NM_021954.4
p.A213T
c.637G>A
1 paper
NM_021954.4
p.A213V
c.638C>T
1 paper
NM_021954.4
p.A209T
c.625G>A
1 paper
NM_021954.4
p.S214T
c.640T>A
1 paper
NM_021954.4
p.M207L
c.619A>T
1 paper
NM_021954.4
p.M207L
c.619A>C
1 paper
NM_021954.4
p.L216L
c.646C>T
1 paper
NM_021954.4
p.F206F
c.618C>T
7 papers
NM_021954.4
p.F206I
c.616T>A
1 paper
NM_021954.4
p.N218S
c.653A>G
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