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

1–12 of 155 variants

15 papers

NM_032634.4

p.G785insFs

c.2355dupC

14 papers

NM_032634.4

p.L957F

c.2869C>T

11 papers

NM_032634.4

p.T788fs

c.2362_2363fs

10 papers

NM_032634.4

p.Q1023_I1024Splc

c.3069+5G>A

9 papers

NM_032634.4

p.T130N

c.389C>A

8 papers

NM_032634.4

p.R119W

c.355C>T

8 papers

NM_032634.4

p.F153S

c.458T>C

8 papers

NM_032634.4

p.L812*

c.2435T>G

7 papers

NM_032634.4

p.Q430*

c.1288C>T

6 papers

NM_032634.4

p.R436W

c.1306C>T

6 papers

NM_032634.4

p.A452fs

c.1354_1355fs

6 papers

NM_032634.4

p.R604insFs

c.1810dupC