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

6 papers

NM_002662.5

p.R675W

c.2023C>T

Surrounding Variants

3 papers

NM_002662.5

p.R675Q

c.2024G>A

1 paper

NM_002662.5

p.I668T

c.2003T>C

2 papers

NM_002662.5

p.I668F

c.2002A>T

1 paper

NM_002662.5

p.A689fs

c.2065_2066fs

2 papers

NM_002662.5

p.R691G

c.2071C>G

2 papers

NM_002662.5

p.R695C

c.2083C>T

2 papers

NM_002662.5

p.R695G

c.2083C>G

1 paper

NM_002662.5

p.R695H

c.2084G>A

3 papers

NM_002662.5

p.R700C

c.2098C>T

1 paper

NM_002662.5

p.R700H

c.2099G>A

1 paper

NM_002662.5

p.F654Y

c.1961T>A

1 paper

NM_002662.5

p.C650S

c.1949G>C