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

6 papers

NM_002641.4

p.V329A

c.986T>C

Surrounding Variants

2 papers

NM_002641.4

p.V329I

c.985G>A

1 paper

NM_002641.4

p.V328delFs

c.984delA

2 papers

NM_002641.4

p.V329insFs

c.986dupT

1 paper

NM_002641.4

p.V328_V329del1

c.984_986delACA

1 paper

NM_002641.4

p.S330fs

c.988_989fs

1 paper

NM_002641.4

p.V329del1

c.985_986delTAC

10 papers

NM_002641.4

p.S330N

c.989G>A

2 papers

NM_002641.4

p.V328F

c.982G>T

1 paper

NM_002641.4

p.Q327_V328Splc

c.982-1G>A

2 papers

NM_002641.4

p.T331I

c.992C>T

1 paper

NM_002641.4

p.G334D

c.1001G>A

1 paper

NM_002641.4

p.G335R

c.1003G>C