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.L113R

c.338T>G

Surrounding Variants

2 papers

NM_002641.4

p.L113P

c.338T>C

2 papers

NM_002641.4

p.L113F

c.337C>T

1 paper

NM_002641.4

p.L112delFs

c.336delC

1 paper

NM_002641.4

p.R114W

c.340A>T

1 paper

NM_002641.4

p.L112*

c.335T>A

1 paper

NM_002641.4

p.L112M

c.334T>A

1 paper

NM_002641.4

p.R114S

c.342G>T

1 paper

NM_002641.4

p.R114S

c.342G>C

1 paper

NM_002641.4

p.L112fs

c.334_335fs

4 papers

NM_002641.4

p.L110del1

c.328_329delCAG

1 paper

NM_002641.4

p.Y115*

c.345C>G

1 paper

NM_002641.4

p.Y115*

c.345C>A