Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.E48G

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
6 papers
NM_021954.4
p.E48G
c.143A>G
Surrounding Variants
2 papers
NM_021954.4
p.E48Q
c.142G>C
10 papers
NM_021954.4
p.E48K
c.142G>A
2 papers
NM_021954.4
p.Q49E
c.145C>G
2 papers
NM_021954.4
p.Q49K
c.145C>A
1 paper
NM_021954.4
p.E48_Q49delins
c.144_145delinsAG
4 papers
NM_021954.4
p.D47A
c.140A>C
2 papers
NM_021954.4
p.Q49P
c.146A>C
6 papers
NM_021954.4
p.D47Y
c.139G>T
2 papers
NM_021954.4
p.D47H
c.139G>C
26 papers
NM_021954.4
p.D47N
c.139G>A
10 papers
NM_021954.4
p.S50P
c.148T>C
9 papers
NM_021954.4
p.G46V
c.137G>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."