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.F384fs

c.1150_1151fs

Surrounding Variants

1 paper

NM_002641.4

p.F384fs

c.1150_1151fs

1 paper

NM_002641.4

p.F384delFs

c.1151delA

1 paper

NM_002641.4

p.K382*

c.1144A>T

2 papers

NM_002641.4

p.W387*

c.1160G>A

1 paper

NM_002641.4

p.W387*

c.1161G>A

1 paper

NM_002641.4

p.N379fs

c.1135_1136fs

1 paper

NM_002641.4

p.H378N

c.1132C>A

1 paper

NM_002641.4

p.A391T

c.1171G>A

1 paper

NM_002641.4

p.N376fs

c.1126_1127fs

1 paper

NM_002641.4

p.N376delFs

c.1127delT

1 paper

NM_002641.4

p.R393I

c.1178G>T

2 papers

NM_002641.4

p.E395K

c.1183G>A

NM_020473.3

p.E161K

c.481G>A