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.T108I

c.323C>T

Surrounding Variants

2 papers

NM_002662.5

p.R118G

c.352A>G

1 paper

NM_002662.5

p.Q124*

c.370C>T

1 paper

NM_002662.5

p.H127D

c.379C>G

1 paper

NM_002662.5

p.R128K

c.383G>A

1 paper

NM_002662.5

p.R145K

c.434G>A

4 papers

NM_002662.5

p.T147A

c.439A>G

2 papers

NM_002662.5

p.R158*

c.472C>T

1 paper

NM_002662.5

p.E159_M160delFs

c.477_478delTC

4 papers

NM_002662.5

p.R165H

c.494G>A

1 paper

NM_002662.5

p.E174K

c.520G>A

1 paper

NM_002662.5

p.R96_V97Splc

c.288+4A>C

1 paper

NM_002662.5

p.R90L

c.269G>T