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.P212delFs

c.635delG

Surrounding Variants

1 paper

NM_002641.4

p.P212fs

c.634_635fs

1 paper

NM_002641.4

p.P212fs

c.634_635fs

1 paper

NM_002641.4

p.V210delFs

c.629delA

1 paper

NM_002641.4

p.A209D

c.626C>A

3 papers

NM_002641.4

p.P217S

c.649C>T

1 paper

NM_002641.4

p.P207R

c.620C>G

1 paper

NM_002641.4

p.D218A

c.653A>C

8 papers

NM_002641.4

p.I206F

c.616A>T

1 paper

NM_002641.4

p.V205delFs

c.614delA

1 paper

NM_002641.4

p.P219fs

c.655_656fs

2 papers

NM_002641.4

p.D218delFs

c.654delG

2 papers

NM_002641.4

p.V205I

c.613G>A