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

4 papers

NM_032634.4

p.R685H

c.2054G>A

Surrounding Variants

1 paper

NM_032634.4

p.L686M

c.2056T>A

1 paper

NM_032634.4

p.R689C

c.2065C>T

2 papers

NM_032634.4

p.R689G

c.2065C>G

1 paper

NM_032634.4

p.N693insFs

c.2077_2078insG

1 paper

NM_032634.4

p.P697S

c.2089C>T

1 paper

NM_032634.4

p.T715I

c.2144C>T

1 paper

NM_032634.4

p.W719*

c.2156G>A

1 paper

NM_032634.4

p.W719*

c.2157G>A

1 paper

NM_032634.4

p.C648W

c.1944C>G

1 paper

NM_032634.4

p.R640H

c.1919G>A

1 paper

NM_032634.4

p.R640C

c.1918C>T

1 paper

NM_032634.4

p.R731fs

c.2191_2192fs