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.R802*

c.2404C>T

Surrounding Variants

1 paper

NM_032634.4

p.Q799H

c.2397A>C

1 paper

NM_032634.4

p.R811Q

c.2432G>A

8 papers

NM_032634.4

p.L812*

c.2435T>G

5 papers

NM_032634.4

p.L812*

c.2435T>A

2 papers

NM_032634.4

p.T788fs

c.2362_2363fs

11 papers

NM_032634.4

p.T788fs

c.2362_2363fs

15 papers

NM_032634.4

p.G785insFs

c.2355dupC

1 paper

NM_032634.4

p.P787fs

c.2359_2360fs

1 paper

NM_032634.4

p.G785fs

c.2353_2354fs

1 paper

NM_032634.4

p.P782L

c.2345C>T

1 paper

NM_032634.4

p.G829E

c.2486G>A

1 paper

NM_032634.4

p.S830G

c.2488A>G