Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.K23T

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.K23T
c.68A>C
Surrounding Variants
2 papers
NM_021954.4
p.V24F
c.70G>T
1 paper
NM_021954.4
p.G22V
c.65G>T
1 paper
NM_021954.4
p.G22D
c.65G>A
6 papers
NM_021954.4
p.G22R
c.64G>C
5 papers
NM_021954.4
p.G22S
c.64G>A
2 papers
NM_021954.4
p.I21Fs
c.62delinsGAFs
1 paper
NM_021954.4
p.W25L
c.74G>T
1 paper
NM_021954.4
p.I21F
c.61A>T
17 papers
NM_021954.4
p.T19M
c.56C>T
3 papers
NM_021954.4
p.V28L
c.82G>T
3 papers
NM_021954.4
p.V28L
c.82G>C
20 papers
NM_021954.4
p.V28M
c.82G>A
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."