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.E69A

c.206A>C

Surrounding Variants

1 paper

NM_002662.5

p.T74A

c.220A>G

1 paper

NM_002662.5

p.C79S

c.235T>A

1 paper

NM_002662.5

p.C79S

c.236G>C

1 paper

NM_002662.5

p.V54fs

c.160_161fs

1 paper

NM_002662.5

p.Q84Q

c.252A>G

1 paper

NM_002662.5

p.V85L

c.253G>C

1 paper

NM_002662.5

p.R90L

c.269G>T

5 papers

NM_002662.5

p.R90H

c.269G>A

1 paper

NM_002662.5

p.R96_V97Splc

c.288+4A>C

2 papers

NM_002662.5

p.P49A

c.145C>G

1 paper

NM_002662.5

p.S47S

c.141C>T

1 paper

NM_002662.5

p.Y42S

c.125A>C