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

1–12 of 269 variants

4 papers

NM_001503.4

p.D275E

c.825C>G

4 papers

NM_001503.4

p.D275E

c.825C>A

3 papers

NM_001503.4

p.N103S

c.308A>G

3 papers

NM_001503.4

p.N271S

c.812A>G

3 papers

NM_001503.4

p.R449W

c.1345C>T

3 papers

NM_001503.4

p.M694V

c.2080A>G

2 papers

NM_001503.4

p.H133N

c.397C>A

2 papers

NM_001503.4

p.S159L

c.476C>T

2 papers

NM_001503.4

p.R181C

c.541C>T

2 papers

NM_001503.4

p.R199*

c.595C>T

2 papers

NM_001503.4

p.D253N

c.757G>A

2 papers

NM_001503.4

p.D337N

c.1009G>A