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

14 papers

NM_032634.4

p.L957F

c.2869C>T

Surrounding Variants

1 paper

NM_032634.4

p.L957P

c.2870T>C

1 paper

NM_032634.4

p.W960L

c.2879G>T

3 papers

NM_032634.4

p.V952fs

c.2854_2855fs

1 paper

NM_032634.4

p.Q967R

c.2900A>G

1 paper

NM_032634.4

p.R997L

c.2990G>T

1 paper

NM_032634.4

p.V952Splc

c.2854+1G>A

10 papers

NM_032634.4

p.Q1023_I1024Splc

c.3069+5G>A

1 paper

NM_032634.4

p.Q1023_I1024Splc

c.3069+7G>A

1 paper

NM_032634.4

p.F903del1

c.2707_2708delGAA

1 paper

NM_032634.4

p.G883fs

c.2647_2648fs

1 paper

NM_032634.4

p.Q1023_I1024Splc

c.3070-15C>T

1 paper

NM_032634.4

p.L1034P

c.3101T>C