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

2 papers

NM_002641.4

p.S127*

c.380C>A

Surrounding Variants

2 papers

NM_002641.4

p.S127L

c.380C>T

2 papers

NM_002641.4

p.S127*

c.380C>G

6 papers

NM_002641.4

p.H128R

c.383A>G

1 paper

NM_002641.4

p.H126delFs

c.376delG

1 paper

NM_002641.4

p.H126fs

c.376_377fs

2 papers

NM_002641.4

p.H126Y

c.376C>T

1 paper

NM_002641.4

p.S129C

c.385A>T

1 paper

NM_002641.4

p.S130fs

c.388_389fs

3 papers

NM_002641.4

p.F131L

c.391T>C

7 papers

NM_002641.4

p.T123M

c.368C>T

2 papers

NM_002641.4

p.T123insFs

c.368_369insA

2 papers

NM_002641.4

p.F131L

c.393T>G