Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.M102L

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.M102L
c.304A>C
Surrounding Variants
1 paper
NM_021954.4
p.M102L
c.304A>T
1 paper
NM_021954.4
p.M102V
c.304A>G
4 papers
NM_021954.4
p.R101L
c.302G>T
1 paper
NM_021954.4
p.R101P
c.302G>C
1 paper
NM_021954.4
p.R101H
c.302G>A
1 paper
NM_021954.4
p.E103K
c.307G>A
3 papers
NM_021954.4
p.R101C
c.301C>T
1 paper
NM_021954.4
p.E103A
c.308A>C
2 papers
NM_021954.4
p.E103_E104insFs
c.309_310insA
1 paper
NM_021954.4
p.V100M
c.298G>A
1 paper
NM_021954.4
p.I99M
c.297C>G
1 paper
NM_021954.4
p.I99F
c.295A>T
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