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.L359W

c.1076T>G

Surrounding Variants

1 paper

NM_002641.4

p.G358delFs

c.1073delC

1 paper

NM_002641.4

p.E360V

c.1079A>T

2 papers

NM_002641.4

p.G358fs

c.1072_1073fs

1 paper

NM_002641.4

p.C356Y

c.1067G>A

1 paper

NM_002641.4

p.C356fs

c.1066_1067fs

6 papers

NM_002641.4

p.L355S

c.1064T>C

1 paper

NM_002641.4

p.S354Y

c.1061C>A

1 paper

NM_002641.4

p.Q365*

c.1093C>T

1 paper

NM_002641.4

p.L366_K367insA

c.1096_1100ins3

1 paper

NM_002641.4

p.V352insFs

c.1054dupG

2 papers

NM_002641.4

p.L366P

c.1097T>C

1 paper

NM_002641.4

p.P350_S351delFs

c.1049_1053del5