Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.L93V

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.L93V
c.277C>G
Surrounding Variants
1 paper
NM_021954.4
p.Y92C
c.275A>G
1 paper
NM_021954.4
p.G94R
c.280G>C
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.L93_G94del1
c.279_281delCCC
2 papers
NM_021954.4
p.H95N
c.283C>A
1 paper
NM_021954.4
p.H95L
c.284A>T
2 papers
NM_021954.4
p.H95R
c.284A>G
1 paper
NM_021954.4
p.L90R
c.269T>G
2 papers
NM_021954.4
p.L90P
c.269T>C
2 papers
NM_021954.4
p.V96M
c.286G>A
5 papers
NM_021954.4
p.L90F
c.268C>T
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