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.P325H

c.974C>A

Surrounding Variants

1 paper

NM_032634.4

p.I318N

c.953T>A

1 paper

NM_032634.4

p.E314G

c.941A>G

2 papers

NM_032634.4

p.M344L

c.1030A>T

2 papers

NM_032634.4

p.M344L

c.1030A>C

4 papers

NM_032634.4

p.M344K

c.1031T>A

1 paper

NM_032634.4

p.H368Y

c.1102C>T

1 paper

NM_032634.4

p.N370D

c.1108A>G

4 papers

NM_032634.4

p.N370S

c.1109A>G

1 paper

NM_032634.4

p.Q373_V374Splc

c.1119+7A>G

1 paper

NM_032634.4

p.E313_E314Splc

c.939+12G>C

1 paper

NM_032634.4

p.E313_E314Splc

c.939+1G>A

1 paper

NM_032634.4

p.S302N

c.905G>A