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.D149G

c.446A>G

Surrounding Variants

1 paper

NM_001503.4

p.D149Y

c.445G>T

1 paper

NM_001503.4

p.G152C

c.454G>T

1 paper

NM_001503.4

p.G152S

c.454G>A

1 paper

NM_001503.4

p.S153F

c.458C>T

1 paper

NM_001503.4

p.H158Y

c.472C>T

1 paper

NM_001503.4

p.H158N

c.472C>A

2 papers

NM_001503.4

p.S159L

c.476C>T

1 paper

NM_001503.4

p.G161S

c.481G>A

1 paper

NM_001503.4

p.G164E

c.491G>A

1 paper

NM_001503.4

p.G165A

c.494G>C

1 paper

NM_001503.4

p.G165_D166del1

c.494_496delCTC

1 paper

NM_001503.4

p.V167M

c.499G>A