Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.E16Q

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.E16Q
c.46G>C
Surrounding Variants
1 paper
NM_021954.4
p.E16K
c.46G>A
1 paper
NM_021954.4
p.Q15K
c.43C>A
1 paper
NM_021954.4
p.H17R
c.50A>G
1 paper
NM_021954.4
p.H17P
c.50A>C
1 paper
NM_021954.4
p.A14V
c.41C>T
3 papers
NM_021954.4
p.S18P
c.52T>C
1 paper
NM_021954.4
p.N13K
c.39T>G
3 papers
NM_021954.4
p.N13K
c.39T>A
1 paper
NM_021954.4
p.S18S
c.54C>A
17 papers
NM_021954.4
p.T19M
c.56C>T
1 paper
NM_021954.4
p.E12K
c.34G>A
27 papers
NM_021954.4
p.L11S
c.32T>C
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