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.Y99D

c.295T>G

Surrounding Variants

1 paper

NM_001503.4

p.H98N

c.292C>A

1 paper

NM_001503.4

p.V97V

c.291T>A

1 paper

NM_001503.4

p.V97A

c.290T>C

1 paper

NM_001503.4

p.R101Q

c.302G>A

3 papers

NM_001503.4

p.N103S

c.308A>G

1 paper

NM_001503.4

p.Y104H

c.310T>C

1 paper

NM_001503.4

p.Y104F

c.311A>T

1 paper

NM_001503.4

p.L93P

c.278T>C

1 paper

NM_001503.4

p.P105L

c.314C>T

1 paper

NM_001503.4

p.P91R

c.272C>G

1 paper

NM_001503.4

p.P107L

c.320C>T

1 paper

NM_001503.4

p.H88N

c.262C>A