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

1 paper

NM_002662.5

p.T890P

c.2668A>C

Surrounding Variants

2 papers

NM_002662.5

p.Y894S

c.2681A>C

1 paper

NM_002662.5

p.H896N

c.2686C>A

1 paper

NM_002662.5

p.H896R

c.2687A>G

15 papers

NM_002662.5

p.K898R

c.2693A>G

1 paper

NM_002662.5

p.D903A

c.2708A>C

1 paper

NM_002662.5

p.D903E

c.2709T>G

1 paper

NM_002662.5

p.D903E

c.2709T>A

1 paper

NM_002662.5

p.C876S

c.2627G>C

1 paper

NM_002662.5

p.C876S

c.2626T>A

1 paper

NM_002662.5

p.V907L

c.2719G>C

1 paper

NM_002662.5

p.G910Splc

c.2728+4A>G

1 paper

NM_002662.5

p.G910V

c.2729G>T