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

2 papers

NM_002662.5

p.R917H

c.2750G>A

Surrounding Variants

1 paper

NM_002662.5

p.N915T

c.2744A>C

2 papers

NM_002662.5

p.R923H

c.2768G>A

3 papers

NM_002662.5

p.S911A

c.2731T>G

1 paper

NM_002662.5

p.S911T

c.2731T>A

1 paper

NM_002662.5

p.G910V

c.2729G>T

1 paper

NM_002662.5

p.G910A

c.2729G>C

1 paper

NM_001130081.3

p.S887I

c.2660G>T

1 paper

NM_002662.5

p.E926Q

c.2776G>C

1 paper

NM_002662.5

p.E935*

c.2803G>T

1 paper

NM_001130081.3

p.E897V

c.2690A>T

1 paper

NM_001130081.3

p.E897A

c.2690A>C

1 paper

NM_002662.5

p.V940I

c.2818G>A