Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.R200W

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.R200W
c.598C>T
Surrounding Variants
1 paper
NM_033419.5
p.F199S
c.596T>C
2 papers
NM_033419.5
p.T187I
c.560C>T
5 papers
NM_033419.5
p.R186T
c.557G>C
7 papers
NM_033419.5
p.R186Splc
c.558-10G>A
1 paper
NM_033419.5
p.N228S
c.683A>G
2 papers
NM_033419.5
p.V229M
c.685G>A
1 paper
NM_033419.5
p.G232Splc
c.694+3G>T
1 paper
NM_033419.5
p.G232D
c.695G>A
3 papers
NM_033419.5
p.L233L
c.697C>T
1 paper
NM_033419.5
p.V237L
c.709G>C
1 paper
NM_033419.5
p.W238*
c.713G>A
1 paper
NM_033419.5
p.W239C
c.717G>T
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