Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.N188T

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
24 papers
NM_021954.4
p.N188T
c.563A>C
Surrounding Variants
7 papers
NM_021954.4
p.N188I
c.563A>T
2 papers
NM_021954.4
p.N188S
c.563A>G
1 paper
NM_021954.4
p.N188D
c.562A>G
1 paper
NM_021954.4
p.T189A
c.565A>G
1 paper
NM_021954.4
p.T189P
c.565A>C
27 papers
NM_021954.4
p.P187L
c.560C>T
1 paper
NM_021954.4
p.T189M
c.566C>T
13 papers
NM_021954.4
p.P187S
c.559C>T
1 paper
NM_021954.4
p.P187A
c.559C>G
1 paper
NM_021954.4
p.V190G
c.569T>G
1 paper
NM_021954.4
p.C186R
c.556T>C
2 papers
NM_021954.4
p.D191N
c.571G>A
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