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.A137V

c.410C>T

Surrounding Variants

9 papers

NM_032634.4

p.T130N

c.389C>A

1 paper

NM_032634.4

p.I147T

c.440T>C

2 papers

NM_032634.4

p.A149_G150delFs

c.445_448del4

8 papers

NM_032634.4

p.F153S

c.458T>C

2 papers

NM_032634.4

p.A154D

c.461C>A

1 paper

NM_032634.4

p.R119Q

c.356G>A

8 papers

NM_032634.4

p.R119W

c.355C>T

1 paper

NM_032634.4

p.A157V

c.470C>T

1 paper

NM_032634.4

p.D161G

c.482A>G

1 paper

NM_032634.4

p.I113V

c.337A>G

1 paper

NM_032634.4

p.G171Splc

c.511+2T>C

1 paper

NM_032634.4

p.R92*

c.274A>T