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.V173delFs

c.517delC

Surrounding Variants

1 paper

NM_002641.4

p.V173G

c.518T>G

1 paper

NM_002641.4

p.V173fs

c.517_518fs

1 paper

NM_002641.4

p.V173M

c.517G>A

1 paper

NM_002641.4

p.T172T

c.516C>T

1 paper

NM_002641.4

p.T172S

c.515C>G

1 paper

NM_002641.4

p.T172S

c.514A>T

1 paper

NM_002641.4

p.T172P

c.514A>C

1 paper

NM_002641.4

p.T172insFs

c.514_515insCA

1 paper

NM_002641.4

p.L175fs

c.523_524fs

1 paper

NM_002641.4

p.L175F

c.523C>T

1 paper

NM_002641.4

p.L171R

c.512T>G

1 paper

NM_002641.4

p.L175delFs

c.523_524delAG