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.L500V

c.1498C>G

Surrounding Variants

1 paper

NM_032634.4

p.I504T

c.1511T>C

1 paper

NM_032634.4

p.A531D

c.1592C>A

1 paper

NM_032634.4

p.I464fs

c.1390_1391fs

1 paper

NM_032634.4

p.I464Fs

c.1392delinsGAFs

1 paper

NM_032634.4

p.I464fs

c.1390_1391fs

2 papers

NM_032634.4

p.S461Y

c.1382C>A

3 papers

NM_032634.4

p.A452delFs

c.1355_1356delCG

6 papers

NM_032634.4

p.A452fs

c.1354_1355fs

3 papers

NM_032634.4

p.M451R

c.1352T>G

2 papers

NM_032634.4

p.R445_L448del4

c.1333_1343del12

1 paper

NM_032634.4

p.W443*

c.1329G>A

1 paper

NM_032634.4

p.W443*

c.1328G>A