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

10 papers

NM_002641.4

p.N179Y

c.535A>T

Surrounding Variants

1 paper

NM_002641.4

p.N179fs

c.535_536fs

1 paper

NM_002641.4

p.N179delFs

c.536delT

1 paper

NM_002641.4

p.T178A

c.532A>G

1 paper

NM_002641.4

p.H180L

c.539A>T

1 paper

NM_002641.4

p.I181S

c.542T>G

2 papers

NM_002641.4

p.C176*

c.528T>A

1 paper

NM_002641.4

p.C176delFs

c.527delC

1 paper

NM_002641.4

p.C176F

c.527G>T

1 paper

NM_002641.4

p.L175_C176delFs

c.525_526delAA

1 paper

NM_002641.4

p.L175_C176delFs

c.523_526del4

1 paper

NM_002641.4

p.L175delFs

c.523_524delAG

1 paper

NM_002641.4

p.L175fs

c.523_524fs