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.R398C

c.1192C>T

Surrounding Variants

1 paper

NM_002662.5

p.E395fs

c.1183_1184fs

1 paper

NM_002662.5

p.C403S

c.1207T>A

1 paper

NM_002662.5

p.V393L

c.1177G>T

1 paper

NM_002662.5

p.V393L

c.1177G>C

1 paper

NM_002662.5

p.C403S

c.1208G>C

1 paper

NM_002662.5

p.R391L

c.1172G>T

5 papers

NM_002662.5

p.R391C

c.1171C>T

1 paper

NM_002662.5

p.L405F

c.1213C>T

2 papers

NM_002662.5

p.L389R

c.1166T>G

3 papers

NM_002662.5

p.R407*

c.1219C>T

1 paper

NM_002662.5

p.A409G

c.1226C>G

1 paper

NM_002662.5

p.W382C

c.1146G>T