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.P472L

c.1415C>T

Surrounding Variants

1 paper

NM_001503.4

p.P472S

c.1414C>T

1 paper

NM_001503.4

p.V474V

c.1422G>A

1 paper

NM_001503.4

p.A468V

c.1403C>T

1 paper

NM_001503.4

p.D466V

c.1397A>T

1 paper

NM_001503.4

p.G463D

c.1388G>A

1 paper

NM_001503.4

p.Y481C

c.1442A>G

1 paper

NM_001503.4

p.V461A

c.1382T>C

1 paper

NM_001503.4

p.N460T

c.1379A>C

1 paper

NM_001503.4

p.D458H

c.1372G>C

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.V456E

c.1367T>A