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

2 papers

NM_002641.4

p.D218delFs

c.654delG

Surrounding Variants

1 paper

NM_002641.4

p.P219fs

c.655_656fs

1 paper

NM_002641.4

p.D218A

c.653A>C

1 paper

NM_002641.4

p.F220delFs

c.660delA

1 paper

NM_002641.4

p.R222fs

c.664_665fs

1 paper

NM_002641.4

p.R221delFs

c.662_663delTC

1 paper

NM_002641.4

p.R222K

c.665G>A

3 papers

NM_002641.4

p.P217S

c.649C>T

1 paper

NM_002641.4

p.P212fs

c.634_635fs

1 paper

NM_002641.4

p.P212delFs

c.635delG

1 paper

NM_002641.4

p.P212fs

c.634_635fs

1 paper

NM_002641.4

p.I228fs

c.682_683fs

1 paper

NM_002641.4

p.V210delFs

c.629delA