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

3 papers

NM_032634.4

p.F1055L

c.3165C>G

Surrounding Variants

3 papers

NM_032634.4

p.F1055L

c.3165C>A

3 papers

NM_032634.4

p.F1055L

c.3163T>C

1 paper

NM_032634.4

p.S1059R

c.3175A>C

1 paper

NM_032634.4

p.S1059R

c.3177C>G

1 paper

NM_032634.4

p.S1059R

c.3177C>A

1 paper

NM_001201484.2

p.L645F

c.1933C>T

NM_032634.4

p.L1062F

c.3184C>T

2 papers

NM_032634.4

p.K1047E

c.3139A>G

1 paper

NM_032634.4

p.M1070R

c.3209T>G

3 papers

NM_032634.4

p.K1047E

c.3139A>G

1 paper

NM_032634.4

p.R1035C

c.3103C>T

1 paper

NM_032634.4

p.L1034P

c.3101T>C

1 paper

NM_032634.4

p.Q1023_I1024Splc

c.3070-15C>T