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

3 papers

NM_002641.4

p.S164L

c.491C>T

Surrounding Variants

1 paper

NM_002641.4

p.D161_S163del3

c.481_488del9

1 paper

NM_002641.4

p.S163S

c.489C>T

1 paper

NM_002641.4

p.S163R

c.489C>G

1 paper

NM_002641.4

p.S163R

c.489C>A

1 paper

NM_002641.4

p.S163delFs

c.488delC

1 paper

NM_002641.4

p.S163R

c.487A>C

1 paper

NM_002641.4

p.V162delFs

c.486delG

2 papers

NM_002641.4

p.V162fs

c.484_485fs

1 paper

NM_002641.4

p.V162delFs

c.485delA

1 paper

NM_002641.4

p.D161G

c.482A>G

2 papers

NM_002641.4

p.D161N

c.481G>A

1 paper

NM_002641.4

p.N168H

c.502A>C