Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.H95R

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.H95R
c.284A>G
Surrounding Variants
1 paper
NM_021954.4
p.H95L
c.284A>T
2 papers
NM_021954.4
p.H95N
c.283C>A
2 papers
NM_021954.4
p.V96M
c.286G>A
1 paper
NM_021954.4
p.L93_G94del1
c.279_281delCCC
1 paper
NM_021954.4
p.V96G
c.287T>G
1 paper
NM_021954.4
p.V96E
c.287T>A
1 paper
NM_021954.4
p.G94A
c.281G>C
1 paper
NM_021954.4
p.G94D
c.281G>A
1 paper
NM_021954.4
p.G94R
c.280G>C
1 paper
NM_021954.4
p.L97R
c.290T>G
1 paper
NM_021954.4
p.L93V
c.277C>G
3 papers
NM_021954.4
p.H98R
c.293A>G
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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."