Varaico: Literature-Extracted Genetic Variants

PIGO

118 papers

RefSeq Summary

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The ...

Pfam Domains

Phosphodiestaa 149–296UCSCType I phosphodiesterase / nucleotide pyrophosphatase

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class O

HGNC Alias Symbols

DKFZp434M222; FLJ00135; PIG-O

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032634.4

p.R745Q

c.2234G>A

Surrounding Variants

1 paper

NM_032634.4

p.R733Q

c.2198G>A

1 paper

NM_032634.4

p.R731fs

c.2191_2192fs

1 paper

NM_032634.4

p.R731insFs

c.2191dupC

2 papers

NM_032634.4

p.R731delFs

c.2191delG

1 paper

NM_032634.4

p.R731fs

c.2191_2192fs

1 paper

NM_032634.4

p.P762L

c.2285C>T

1 paper

NM_032634.4

p.G770R

c.2308G>C

1 paper

NM_032634.4

p.G770R

c.2308G>A

1 paper

NM_032634.4

p.W719*

c.2157G>A

1 paper

NM_032634.4

p.W719*

c.2156G>A

1 paper

NM_032634.4

p.T715I

c.2144C>T

1 paper

NM_032634.4

p.P782L

c.2345C>T