Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.F77L

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
2 papers
NM_021954.4
p.F77L
c.229T>C
Surrounding Variants
1 paper
NM_021954.4
p.F77V
c.229T>G
1 paper
NM_021954.4
p.R76L
c.227G>T
23 papers
NM_021954.4
p.R76H
c.227G>A
1 paper
NM_021954.4
p.F77F
c.231C>T
1 paper
NM_021954.4
p.F77L
c.231C>G
1 paper
NM_021954.4
p.F77L
c.231C>A
3 papers
NM_021954.4
p.R76C
c.226C>T
17 papers
NM_021954.4
p.R76G
c.226C>G
2 papers
NM_021954.4
p.R76S
c.226C>A
2 papers
NM_021954.4
p.A79P
c.235G>C
1 paper
NM_021954.4
p.A79T
c.235G>A
1 paper
NM_021954.4
p.A79V
c.236C>T
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