Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.R109K

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.R109K
c.326G>A
Surrounding Variants
1 paper
NM_021954.4
p.R109S
c.327G>T
1 paper
NM_021954.4
p.R109S
c.327G>C
1 paper
NM_021954.4
p.R109W
c.325A>T
1 paper
NM_021954.4
p.E108D
c.324G>T
1 paper
NM_021954.4
p.E108D
c.324G>C
1 paper
NM_021954.4
p.E110K
c.328G>A
1 paper
NM_021954.4
p.E110delins
c.329delinsT
1 paper
NM_021954.4
p.E108G
c.323A>G
1 paper
NM_021954.4
p.E110Fs
c.328_329delinsTFs
1 paper
NM_021954.4
p.E110D
c.330G>T
1 paper
NM_021954.4
p.E110D
c.330G>C
1 paper
NM_021954.4
p.E108Q
c.322G>C
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