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

2 papers

NM_001503.4

p.D337N

c.1009G>A

Surrounding Variants

1 paper

NM_001503.4

p.D337Y

c.1009G>T

1 paper

NM_001503.4

p.Y343F

c.1028A>T

1 paper

NM_001503.4

p.R351G

c.1051A>G

1 paper

NM_001503.4

p.S361*

c.1082C>G

1 paper

NM_001503.4

p.S361*

c.1082C>A

1 paper

NM_001503.4

p.S366F

c.1097C>T

1 paper

NM_001503.4

p.F373del1

c.1117_1118delGAA

1 paper

NM_001503.4

p.P377S

c.1129C>T

1 paper

NM_001503.4

p.A379V

c.1136C>T

1 paper

NM_001503.4

p.W383Splc

c.1148+4C>T

1 paper

NM_001503.4

p.A384G

c.1151C>G

1 paper

NM_001503.4

p.L398L

c.1194C>A