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.N376delFs

c.1127delT

Surrounding Variants

1 paper

NM_002641.4

p.N376fs

c.1126_1127fs

1 paper

NM_002641.4

p.H378N

c.1132C>A

1 paper

NM_002641.4

p.N379fs

c.1135_1136fs

1 paper

NM_002641.4

p.P372delFs

c.1114delG

1 paper

NM_002641.4

p.L371*

c.1112T>A

1 paper

NM_002641.4

p.K382*

c.1144A>T

1 paper

NM_002641.4

p.F384fs

c.1150_1151fs

1 paper

NM_002641.4

p.G369W

c.1105G>T

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.S368fs

c.1102_1103fs

1 paper

NM_002641.4

p.S368*

c.1103C>G