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

1–12 of 230 variants

15 papers

NM_002662.5

p.K898R

c.2693A>G

6 papers

NM_002662.5

p.R398C

c.1192C>T

6 papers

NM_002662.5

p.R675W

c.2023C>T

5 papers

NM_002662.5

p.R90H

c.269G>A

5 papers

NM_002662.5

p.R391C

c.1171C>T

4 papers

NM_002662.5

p.T147A

c.439A>G

4 papers

NM_002662.5

p.R165H

c.494G>A

4 papers

NM_002662.5

p.C240S

c.718T>A

4 papers

NM_002662.5

p.C240S

c.719G>C

4 papers

NM_002662.5

p.C241S

c.721T>A

4 papers

NM_002662.5

p.C241S

c.722G>C

4 papers

NM_002662.5

p.E290Q

c.868G>C