Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.T348T

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.T348T
c.1044G>C
Surrounding Variants
1 paper
NM_021954.4
p.P349S
c.1045C>T
1 paper
NM_021954.4
p.T348M
c.1043C>T
2 papers
NM_021954.4
p.P349L
c.1046C>T
1 paper
NM_021954.4
p.A350T
c.1048G>A
1 paper
NM_021954.4
p.A351S
c.1051G>T
1 paper
NM_021954.4
p.A351T
c.1051G>A
1 paper
NM_021954.4
p.A346V
c.1037C>T
1 paper
NM_021954.4
p.A346G
c.1037C>G
1 paper
NM_021954.4
p.P352S
c.1054C>T
1 paper
NM_021954.4
p.A345V
c.1034C>T
1 paper
NM_021954.4
p.P352L
c.1055C>T
1 paper
NM_021954.4
p.P344L
c.1031C>T
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