Varaico: Literature-Extracted Genetic Variants

PIGT

121 papers

RefSeq Summary

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the ce...

Pfam Domains

Gpi16aa 20–257UCSCGpi16 subunit, GPI transamidase component

Gpi16aa 249–571UCSCGpi16 subunit, GPI transamidase component

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class T

HGNC Alias Symbol

PIG-T

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_015937.6

p.D306insFs

c.918dupC

Surrounding Variants

5 papers

NM_015937.6

p.V307fs

c.919_920fs

1 paper

NM_015937.6

p.Q305R

c.914A>G

1 paper

NM_015937.6

p.L309insFs

c.925dupC

1 paper

NM_015937.6

p.L309fs

c.925_926fs

1 paper

NM_015937.6

p.R312Q

c.935G>A

1 paper

NM_015937.6

p.T314delFs

c.942delC

1 paper

NM_015937.6

p.Y315fs

c.943_944fs

1 paper

NM_015937.6

p.V296M

c.886G>A

1 paper

NM_015937.6

p.E295Q

c.883G>C

1 paper

NM_015937.6

p.T323N

c.968C>A

1 paper

NM_015937.6

p.R330*

c.988C>T

1 paper

NM_015937.6

p.P341H

c.1022C>A