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.W354*

c.1062G>A

Surrounding Variants

1 paper

NM_002662.5

p.G360E

c.1079G>A

1 paper

NM_002662.5

p.F362S

c.1085T>C

1 paper

NM_002662.5

p.M369delFs

c.1105delT

1 paper

NM_002662.5

p.M369I

c.1107G>T

1 paper

NM_002662.5

p.M369I

c.1107G>C

1 paper

NM_002662.5

p.M369I

c.1107G>A

1 paper

NM_002662.5

p.W354Splc

c.1062-59A>G

1 paper

NM_002662.5

p.I378insFs

c.1132dupA

1 paper

NM_002662.5

p.I378fs

c.1132_1133fs

1 paper

NM_002662.5

p.L308*

c.923T>A

3 papers

NM_002662.5

p.R298*

c.892C>T

1 paper

NM_002662.5

p.Y295F

c.884A>T