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.F638L

c.1912T>C

Surrounding Variants

1 paper

NM_032634.4

p.F638L

c.1914T>G

1 paper

NM_032634.4

p.F638L

c.1914T>A

1 paper

NM_032634.4

p.R640C

c.1918C>T

1 paper

NM_032634.4

p.R640H

c.1919G>A

1 paper

NM_032634.4

p.C648W

c.1944C>G

1 paper

NM_032634.4

p.R615Q

c.1844G>A

1 paper

NM_032634.4

p.R615W

c.1843C>T

2 papers

NM_032634.4

p.P613_P614delFs

c.1838_1841del4

2 papers

NM_032634.4

p.P613fs

c.1837_1838fs

1 paper

NM_032634.4

p.R604fs

c.1810_1811fs

6 papers

NM_032634.4

p.R604insFs

c.1810dupC

1 paper

NM_032634.4

p.R604H

c.1811G>A