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.H871P

c.2612A>C

Surrounding Variants

1 paper

NM_032634.4

p.L868R

c.2603T>G

1 paper

NM_032634.4

p.V837D

c.2510T>A

2 papers

NM_032634.4

p.A834fs

c.2500_2501fs

5 papers

NM_032634.4

p.A834fs

c.2500_2501fs

5 papers

NM_032634.4

p.S833delFs

c.2497_2498delGA

1 paper

NM_032634.4

p.Y832delFs

c.2496delG

1 paper

NM_032634.4

p.S833fs

c.2497_2498fs

1 paper

NM_032634.4

p.S830G

c.2488A>G

1 paper

NM_032634.4

p.G829E

c.2486G>A

8 papers

NM_032634.4

p.L812*

c.2435T>G

5 papers

NM_032634.4

p.L812*

c.2435T>A

1 paper

NM_032634.4

p.R811Q

c.2432G>A