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.I192M

c.576T>G

Surrounding Variants

1 paper

NM_001503.4

p.G191R

c.571G>C

1 paper

NM_001503.4

p.K195N

c.585A>T

1 paper

NM_001503.4

p.Y197C

c.590A>G

1 paper

NM_001503.4

p.G198R

c.592G>C

1 paper

NM_001503.4

p.K187R

c.560A>G

1 paper

NM_001503.4

p.G198D

c.593G>A

2 papers

NM_001503.4

p.R199*

c.595C>T

1 paper

NM_001503.4

p.R199Q

c.596G>A

1 paper

NM_001503.4

p.Y183*

c.549T>G

1 paper

NM_001503.4

p.Y183*

c.549T>A

1 paper

NM_001503.4

p.Y183C

c.548A>G

1 paper

NM_001503.4

p.Y183D

c.547T>G