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.G414R

c.1240G>A

Surrounding Variants

1 paper

NM_001503.4

p.G414R

c.1240G>C

1 paper

NM_001503.4

p.R415C

c.1243C>T

1 paper

NM_001503.4

p.R415H

c.1244G>A

1 paper

NM_001503.4

p.H412P

c.1235A>C

1 paper

NM_001503.4

p.V416G

c.1247T>G

1 paper

NM_001503.4

p.L418P

c.1253T>C

1 paper

NM_001503.4

p.P403A

c.1207C>G

1 paper

NM_001503.4

p.G401A

c.1202G>C

1 paper

NM_001503.4

p.L426L

c.1278G>A

1 paper

NM_001503.4

p.V399M

c.1195G>A

1 paper

NM_001503.4

p.L398L

c.1194C>A

1 paper

NM_001503.4

p.L431R

c.1292T>G