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.R233fs

c.697_698fs

Surrounding Variants

1 paper

NM_002641.4

p.R233G

c.697A>G

1 paper

NM_002641.4

p.R233I

c.698G>T

1 paper

NM_002641.4

p.R233fs

c.697_698fs

1 paper

NM_002641.4

p.L234F

c.700C>T

1 paper

NM_002641.4

p.S232C

c.694A>T

1 paper

NM_002641.4

p.S232G

c.694A>G

1 paper

NM_002641.4

p.V231I

c.691G>A

1 paper

NM_002641.4

p.I228_V229del2

c.682_686del6

1 paper

NM_002641.4

p.V229F

c.685G>T

1 paper

NM_002641.4

p.I228delFs

c.684delA

1 paper

NM_002641.4

p.I228fs

c.682_683fs

1 paper

NM_002641.4

p.G239W

c.715G>T