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

1 paper

NM_002641.4

p.T105delFs

c.313delT

Surrounding Variants

1 paper

NM_002641.4

p.T105I

c.314C>T

1 paper

NM_002641.4

p.T105fs

c.313_314fs

1 paper

NM_002641.4

p.L106F

c.316C>T

1 paper

NM_002641.4

p.L106R

c.317T>G

1 paper

NM_002641.4

p.L106P

c.317T>C

1 paper

NM_002641.4

p.A103V

c.308C>T

1 paper

NM_002641.4

p.H108Y

c.322C>T

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.H108delFs

c.322delG

1 paper

NM_002641.4

p.Q100fs

c.298_299fs

1 paper

NM_002641.4

p.L110fs

c.328_329fs