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.C241S

c.721T>A

Surrounding Variants

4 papers

NM_002662.5

p.C241S

c.722G>C

4 papers

NM_002662.5

p.C240S

c.719G>C

4 papers

NM_002662.5

p.C240S

c.718T>A

3 papers

NM_002662.5

p.G237C

c.709G>T

1 paper

NM_002662.5

p.C247S

c.739T>A

1 paper

NM_002662.5

p.C247S

c.740G>C

1 paper

NM_002662.5

p.C247delFs

c.741delG

1 paper

NM_002662.5

p.G232E

c.695G>A

1 paper

NM_002662.5

p.W250S

c.749G>C

1 paper

NM_002662.5

p.S251T

c.751T>A

1 paper

NM_002662.5

p.S251L

c.752C>T

1 paper

NM_002662.5

p.S230F

c.689C>T