Varaico: Literature-Extracted Genetic Variants

PIGA

294 papers

RefSeq Summary

This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glyco...

Pfam Domains

PIGAaa 72–161UCSCPIGA (GPI anchor biosynthesis)

Glycos_transf_1aa 213–368UCSCGlycosyl transferases group 1

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class A

HGNC Alias Symbols

GPI3; PIG-A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002641.4

p.Y98*

c.294C>A

Surrounding Variants

3 papers

NM_002641.4

p.Y98*

c.294C>G

6 papers

NM_002641.4

p.Y98S

c.293A>C

1 paper

NM_002641.4

p.N99H

c.295A>C

1 paper

NM_002641.4

p.N99T

c.296A>C

2 papers

NM_002641.4

p.M97K

c.290T>A

2 papers

NM_002641.4

p.Q100*

c.298C>T

1 paper

NM_002641.4

p.Q100K

c.298C>A

1 paper

NM_002641.4

p.Q100fs

c.298_299fs

1 paper

NM_002641.4

p.K95E

c.283A>G

1 paper

NM_002641.4

p.T102T

c.306A>T

1 paper

NM_002641.4

p.T102insFs

c.305dupC

1 paper

NM_002641.4

p.A103V

c.308C>T