Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.Y169*

PGAP3

107 papers

RefSeq Summary

This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmemb...

Pfam Domains

Per1aa 54–147UCSCPer1-like family

Gene Aliases

HGNC Name

post-GPI attachment to proteins phospholipase 3

HGNC Previous Symbol

PERLD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_033419.5
p.Y169*
c.507C>G
Surrounding Variants
3 papers
NM_033419.5
p.Y169*
c.507C>A
4 papers
NM_033419.5
p.C171R
c.511T>C
1 paper
NM_033419.5
p.R186fs
c.556_557fs
1 paper
NM_001291726.2
p.V134insFs
c.402dupC
5 papers
NM_033419.5
p.R186T
c.557G>C
7 papers
NM_033419.5
p.R186Splc
c.558-10G>A
5 papers
NM_033419.5
p.R186T
c.557G>C
2 papers
NM_033419.5
p.T187I
c.560C>T
1 paper
NM_033419.5
p.F199S
c.596T>C
1 paper
NM_033419.5
p.R200W
c.598C>T
1 paper
NM_033419.5
p.N228S
c.683A>G
2 papers
NM_033419.5
p.V229M
c.685G>A
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