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.K95E

c.283A>G

Surrounding Variants

15 papers

NM_002641.4

p.P93L

c.278C>T

2 papers

NM_002641.4

p.M97K

c.290T>A

1 paper

NM_002641.4

p.L92insFs

c.274dupT

1 paper

NM_002641.4

p.L92fs

c.274_275fs

1 paper

NM_002641.4

p.Y91Y

c.273C>T

1 paper

NM_002641.4

p.Y91*

c.273C>G

6 papers

NM_002641.4

p.Y98S

c.293A>C

3 papers

NM_002641.4

p.Y98*

c.294C>G

3 papers

NM_002641.4

p.Y98*

c.294C>A

1 paper

NM_002641.4

p.Y91N

c.271T>A

1 paper

NM_002641.4

p.N99H

c.295A>C

1 paper

NM_002641.4

p.Y90*

c.270T>G