Varaico: Literature-Extracted Genetic Variants

PLD1

177 papers

RefSeq Summary

This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in sign...

Pfam Domains

PXaa 106–209UCSCPX domain

PHaa 220–328UCSCPH domain

PLDcaa 459–486UCSCPhospholipase D Active site motif

PLDc_2aa 766–942UCSCPLD-like domain

Gene Aliases

HGNC Name

phospholipase D1

HGNC Previous Name

phospholipase D1, phosphatidylcholine-specific

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002662.5

p.E290Q

c.868G>C

Surrounding Variants

1 paper

NM_002662.5

p.T293M

c.878C>T

1 paper

NM_002662.5

p.Y295F

c.884A>T

3 papers

NM_002662.5

p.R298*

c.892C>T

1 paper

NM_002662.5

p.V275I

c.823G>A

1 paper

NM_002662.5

p.Y264C

c.791A>G

1 paper

NM_002662.5

p.S260T

c.778T>A

1 paper

NM_002662.5

p.W254*

c.762G>A

1 paper

NM_002662.5

p.W254*

c.761G>A

1 paper

NM_002662.5

p.L308*

c.923T>A

1 paper

NM_002662.5

p.W354Splc

c.1062-59A>G

1 paper

NM_002662.5

p.W354*

c.1062G>A

1 paper

NM_002662.5

p.G360E

c.1079G>A