Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.Q167R

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.Q167R
c.500A>G
Surrounding Variants
2 papers
NM_021954.4
p.Q167delFs
c.499delG
1 paper
NM_021954.4
p.F169C
c.506T>G
1 paper
NM_021954.4
p.A165V
c.494C>T
1 paper
NM_021954.4
p.A165G
c.494C>G
1 paper
NM_021954.4
p.A165P
c.493G>C
1 paper
NM_021954.4
p.F169del1
c.505_506delAAA
1 paper
NM_021954.4
p.L170insFs
c.509_510insA
1 paper
NM_021954.4
p.Y171Y
c.513C>T
1 paper
NM_021954.4
p.G172S
c.514G>A
1 paper
NM_021954.4
p.G162G
c.486C>T
2 papers
NM_021954.4
p.G172D
c.515G>A
1 paper
NM_021954.4
p.G162C
c.484G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."