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.N302K

c.906T>G

Surrounding Variants

1 paper

NM_001503.4

p.N302K

c.906T>A

1 paper

NM_001503.4

p.N302I

c.905A>T

1 paper

NM_001503.4

p.H305R

c.914A>G

1 paper

NM_001503.4

p.R306G

c.916A>G

1 paper

NM_001503.4

p.G296R

c.886G>C

1 paper

NM_001503.4

p.G296S

c.886G>A

1 paper

NM_001503.4

p.T313T

c.939T>C

1 paper

NM_001503.4

p.R318W

c.952A>T

1 paper

NM_001503.4

p.G326R

c.976G>C

1 paper

NM_001503.4

p.G326R

c.976G>A

1 paper

NM_001503.4

p.G326G

c.978A>T

1 paper

NM_001503.4

p.P336L

c.1007C>T