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.Y43F

c.128A>T

Surrounding Variants

1 paper

NM_002641.4

p.P44A

c.130C>G

1 paper

NM_002641.4

p.F42insFs

c.125dupT

1 paper

NM_002641.4

p.N45D

c.133A>G

2 papers

NM_002641.4

p.D40V

c.119A>T

2 papers

NM_002641.4

p.D40H

c.118G>C

1 paper

NM_002641.4

p.G47fs

c.139_140fs

3 papers

NM_002641.4

p.S39F

c.116C>T

1 paper

NM_002641.4

p.S39_G47delFs

c.115_140del26

2 papers

NM_002641.4

p.G48C

c.142G>T

1 paper

NM_002641.4

p.G47insFs

c.141dupA

1 paper

NM_002641.4

p.G48S

c.142G>A

1 paper

NM_002641.4

p.M46_G47del0

c.136_141del6