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.F118L

c.354C>A

Surrounding Variants

1 paper

NM_001503.4

p.F118L

c.354C>G

1 paper

NM_001503.4

p.F118L

c.352T>C

1 paper

NM_001503.4

p.A117D

c.350C>A

1 paper

NM_001503.4

p.G121R

c.361G>A

1 paper

NM_001503.4

p.G121V

c.362G>T

1 paper

NM_001503.4

p.K114I

c.341A>T

1 paper

NM_001503.4

p.E113K

c.337G>A

1 paper

NM_001503.4

p.T112I

c.335C>T

1 paper

NM_001503.4

p.H125N

c.373C>A

1 paper

NM_001503.4

p.A127V

c.380C>T

1 paper

NM_001503.4

p.A128A

c.384A>G

1 paper

NM_001503.4

p.V130D

c.389T>A