Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.V260fs

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
1 paper
NM_033419.5
p.V260fs
c.778_779fs
Surrounding Variants
1 paper
NM_033419.5
p.V260insFs
c.778dupG
1 paper
NM_033419.5
p.V253M
c.757G>A
1 paper
NM_033419.5
p.L250P
c.749T>C
1 paper
NM_033419.5
p.E270K
c.808G>A
2 papers
NM_033419.5
p.R248Q
c.743G>A
1 paper
NM_033419.5
p.R248W
c.742C>T
3 papers
NM_033419.5
p.D273fs
c.817_818fs
7 papers
NM_033419.5
p.D273_F274delFs
c.817_820del4
4 papers
NM_033419.5
p.P276L
c.827C>T
1 paper
NM_033419.5
p.W239C
c.717G>T
1 paper
NM_033419.5
p.W239C
c.717G>C
4 papers
NM_033419.5
p.L281P
c.842T>C
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