Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.M219V

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.M219V
c.655A>G
Surrounding Variants
1 paper
NM_021954.4
p.M219T
c.656T>C
1 paper
NM_021954.4
p.M219I
c.657G>T
1 paper
NM_021954.4
p.M219I
c.657G>C
1 paper
NM_021954.4
p.M219I
c.657G>A
1 paper
NM_021954.4
p.S214_M219delFs
c.640_656del17
1 paper
NM_021954.4
p.N218S
c.653A>G
1 paper
NM_021954.4
p.L220L
c.658C>T
1 paper
NM_021954.4
p.L220Q
c.659T>A
1 paper
NM_021954.4
p.L216L
c.646C>T
1 paper
NM_021954.4
p.S214T
c.640T>A
2 papers
NM_021954.4
p.H224insFs
c.670_671insA
2 papers
NM_021954.4
p.H224R
c.671A>G
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