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.N9fs

c.25_26fs

Surrounding Variants

1 paper

NM_002641.4

p.A2_A7del6

c.4_20del18

1 paper

NM_002641.4

p.N9insFs

c.27dupT

1 paper

NM_002641.4

p.A7insFs

c.19dupG

1 paper

NM_002641.4

p.G6R

c.16G>C

1 paper

NM_002641.4

p.M1_G5del5

c.1_14del15

1 paper

NM_002641.4

p.R12H

c.35G>A

1 paper

NM_002641.4

p.G5G

c.15A>G

1 paper

NM_002641.4

p.C3insFs

c.8dupG

1 paper

NM_002641.4

p.M1_C3insFs

c.1_8dup8

1 paper

NM_002641.4

p.M1_C3del0

c.2_7del6

1 paper

NM_002641.4

p.C3G

c.7T>G

1 paper

NM_002641.4

p.A15G

c.44C>G