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.F151insFs

c.452_453insA

Surrounding Variants

1 paper

NM_002641.4

p.F151fs

c.451_452fs

1 paper

NM_002641.4

p.F151fs

c.451_452fs

2 papers

NM_002641.4

p.F151delFs

c.453delG

1 paper

NM_002641.4

p.V150G

c.449T>G

1 paper

NM_002641.4

p.T149_V150delFs

c.447_448delCT

1 paper

NM_002641.4

p.T152M

c.455C>T

1 paper

NM_002641.4

p.T152K

c.455C>A

1 paper

NM_002641.4

p.Q148_T149delFs

c.442_446del5

1 paper

NM_002641.4

p.H154fs

c.460_461fs

1 paper

NM_002641.4

p.H154insFs

c.460_461insA

2 papers

NM_002641.4

p.H154R

c.461A>G

1 paper

NM_002641.4

p.S155A

c.463T>G