Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.N55D

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
7 papers
NM_021954.4
p.N55D
c.163A>G
Surrounding Variants
1 paper
NM_021954.4
p.N55S
c.164A>G
1 paper
NM_021954.4
p.T56P
c.166A>C
1 paper
NM_021954.4
p.F52L
c.156C>G
1 paper
NM_021954.4
p.F52L
c.156C>A
1 paper
NM_021954.4
p.F52L
c.154T>C
1 paper
NM_021954.4
p.F52I
c.154T>A
2 papers
NM_021954.4
p.Q58*
c.172C>T
2 papers
NM_021954.4
p.Q58R
c.173A>G
1 paper
NM_021954.4
p.Q58H
c.174G>T
1 paper
NM_021954.4
p.Q58H
c.174G>C
1 paper
NM_021954.4
p.D51H
c.151G>C
4 papers
NM_021954.4
p.D51N
c.151G>A
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