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.S447*

c.1340C>A

Surrounding Variants

1 paper

NM_001503.4

p.S447*

c.1340C>G

1 paper

NM_001503.4

p.G448R

c.1342G>C

3 papers

NM_001503.4

p.R449W

c.1345C>T

1 paper

NM_001503.4

p.F450C

c.1349T>G

2 papers

NM_001503.4

p.S452L

c.1355C>T

1 paper

NM_001503.4

p.A455V

c.1364C>T

1 paper

NM_001503.4

p.V456E

c.1367T>A

1 paper

NM_001503.4

p.L457F

c.1371G>T

1 paper

NM_001503.4

p.L457F

c.1371G>C

1 paper

NM_001503.4

p.D458H

c.1372G>C

1 paper

NM_001503.4

p.N460T

c.1379A>C

1 paper

NM_001503.4

p.V461A

c.1382T>C