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.N34T

c.101A>C

Surrounding Variants

1 paper

NM_002641.4

p.I35insFs

c.103dupA

1 paper

NM_002641.4

p.I35T

c.104T>C

1 paper

NM_002641.4

p.I35K

c.104T>A

3 papers

NM_002641.4

p.H33R

c.98A>G

1 paper

NM_002641.4

p.C36R

c.106T>C

2 papers

NM_002641.4

p.C36Y

c.107G>A

1 paper

NM_002641.4

p.M37R

c.110T>G

5 papers

NM_002641.4

p.M37T

c.110T>C

1 paper

NM_002641.4

p.R31delFs

c.91delG

1 paper

NM_002641.4

p.R31fs

c.91_92fs

1 paper

NM_002641.4

p.V38E

c.113T>A

3 papers

NM_002641.4

p.S39F

c.116C>T