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.M254T

c.761T>C

Surrounding Variants

1 paper

NM_001503.4

p.D253H

c.757G>C

2 papers

NM_001503.4

p.D253N

c.757G>A

1 paper

NM_001503.4

p.L251L

c.751C>T

1 paper

NM_001503.4

p.G249A

c.746G>C

1 paper

NM_001503.4

p.T265S

c.793A>T

1 paper

NM_001503.4

p.E241V

c.722A>T

3 papers

NM_001503.4

p.N271S

c.812A>G

1 paper

NM_001503.4

p.T273A

c.817A>G

1 paper

NM_001503.4

p.L228V

c.682T>G

1 paper

NM_001503.4

p.S226C

c.677C>G

1 paper

NM_001503.4

p.A224T

c.670G>A

1 paper

NM_001503.4

p.L223R

c.668T>G