Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.A250T

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.A250T
c.748G>A
Surrounding Variants
1 paper
NM_021954.4
p.T249I
c.746C>T
1 paper
NM_021954.4
p.D251A
c.752A>C
1 paper
NM_021954.4
p.P252T
c.754C>A
1 paper
NM_021954.4
p.L247L
c.741G>T
1 paper
NM_021954.4
p.P253L
c.758C>T
1 paper
NM_021954.4
p.P253R
c.758C>G
1 paper
NM_021954.4
p.P253Q
c.758C>A
1 paper
NM_021954.4
p.P246L
c.737C>T
1 paper
NM_021954.4
p.P254S
c.760C>T
1 paper
NM_021954.4
p.P254L
c.761C>T
1 paper
NM_021954.4
p.L255delFs
c.764delA
2 papers
NM_021954.4
p.E244*
c.730G>T
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