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.K367fs

c.1099_1100fs

Surrounding Variants

1 paper

NM_002641.4

p.K367*

c.1099A>T

2 papers

NM_002641.4

p.L366P

c.1097T>C

1 paper

NM_002641.4

p.L366_K367insA

c.1096_1100ins3

1 paper

NM_002641.4

p.S368fs

c.1102_1103fs

1 paper

NM_002641.4

p.S368*

c.1103C>G

1 paper

NM_002641.4

p.S368*

c.1103C>A

1 paper

NM_002641.4

p.S368fs

c.1102_1103fs

1 paper

NM_002641.4

p.G369W

c.1105G>T

1 paper

NM_002641.4

p.Q365*

c.1093C>T

1 paper

NM_002641.4

p.L371*

c.1112T>A

1 paper

NM_002641.4

p.P372delFs

c.1114delG

1 paper

NM_002641.4

p.E360V

c.1079A>T