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.T71fs

c.211_212fs

Surrounding Variants

1 paper

NM_002641.4

p.H72Y

c.214C>T

1 paper

NM_002641.4

p.T71I

c.212C>T

1 paper

NM_002641.4

p.T71A

c.211A>G

1 paper

NM_002641.4

p.H72fs

c.214_215fs

1 paper

NM_002641.4

p.H72Q

c.216T>A

1 paper

NM_002641.4

p.H72delFs

c.215delT

1 paper

NM_002641.4

p.V70D

c.209T>A

1 paper

NM_002641.4

p.A73T

c.217G>A

1 paper

NM_002641.4

p.I69fs

c.205_206fs

1 paper

NM_002641.4

p.Y74N

c.220T>A

1 paper

NM_002641.4

p.I68I

c.204A>T

1 paper

NM_002641.4

p.I68L

c.202A>T