Varaico: Literature-Extracted Genetic Variants

GPLD1

82 papers

RefSeq Summary

Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protei...

Pfam Domains

Zn_dep_PLPCaa 28–220UCSCZinc dependent phospholipase C

FG-GAPaa 381–419UCSCFG-GAP repeat

FG-GAPaa 450–488UCSCFG-GAP repeat

FG-GAPaa 513–550UCSCFG-GAP repeat

Gene Aliases

HGNC Name

glycosylphosphatidylinositol specific phospholipase D1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001503.4

p.P91R

c.272C>G

Surrounding Variants

1 paper

NM_001503.4

p.L93P

c.278T>C

1 paper

NM_001503.4

p.H88N

c.262C>A

1 paper

NM_001503.4

p.S86G

c.256A>G

1 paper

NM_001503.4

p.V97A

c.290T>C

1 paper

NM_001503.4

p.V97V

c.291T>A

1 paper

NM_001503.4

p.E85Q

c.253G>C

1 paper

NM_001503.4

p.H98N

c.292C>A

1 paper

NM_001503.4

p.Y99D

c.295T>G

1 paper

NM_001503.4

p.V83V

c.249G>A

1 paper

NM_001503.4

p.V83A

c.248T>C

1 paper

NM_001503.4

p.D82G

c.245A>G

1 paper

NM_001503.4

p.D82Y

c.244G>T