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.P703S

c.2107C>T

Surrounding Variants

1 paper

NM_001503.4

p.P703L

c.2108C>T

1 paper

NM_001503.4

p.P703H

c.2108C>A

2 papers

NM_001503.4

p.T698I

c.2093C>T

1 paper

NM_001503.4

p.L697R

c.2090T>G

1 paper

NM_001503.4

p.G711R

c.2131G>C

1 paper

NM_001503.4

p.G711R

c.2131G>A

3 papers

NM_001503.4

p.M694V

c.2080A>G

2 papers

NM_001503.4

p.R713C

c.2137C>T

1 paper

NM_001503.4

p.T692I

c.2075C>T

1 paper

NM_001503.4

p.R714C

c.2140C>T

1 paper

NM_001503.4

p.G690R

c.2068G>C

1 paper

NM_001503.4

p.G690R

c.2068G>A