PLD3 c.1326G>C ;(p.A442=)

Variant ID: 19-40883933-G-C

NM_012268.2(PLD3):c.1326G>C;(p.A442=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Endo-lysosomal dysregulations and late-onset Alzheimer's disease: impact of genetic risk factors.

Molecular Neurodegeneration
Van Acker, Zoƫ P ZP; Bretou, Marine M; Annaert, Wim W
Publication Date: 2019-06-03

Variant appearance in text: PLD3: A442A
PubMed Link: 31159836
Variant Present in the following documents:
  • Main text
  • 13024_2019_Article_323.pdf
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Identification of rare variants in Alzheimer's disease.

Frontiers In Genetics
Lord, Jenny J; Lu, Alexander J AJ; Cruchaga, Carlos C
Publication Date: 2014

Variant appearance in text: PLD3: Ala442Ala
PubMed Link: 25389433
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Logue, Mark W MW; Schu, Matthew M; Vardarajan, Badri N BN; Farrell, John J; Bennett, David A DA; Buxbaum, Joseph D JD; Byrd, Goldie S GS; Ertekin-Taner, Nilufer N; Evans, Denis D; Foroud, Tatiana T; Goate, Alison A; Graff-Radford, Neill R NR; Kamboh, M Ilyas MI; Kukull, Walter A WA; Manly, Jennifer J JJ; , ; ,
Publication Date: 2014-11

Variant appearance in text: PLD3: Ala442Ala
PubMed Link: 25172201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare Variants and Transcriptomics in Alzheimer disease.

Current Genetic Medicine Reports
Humphries, Crystal C; Kohli, Martin A MA
Publication Date: 2014-06-01

Variant appearance in text: PLD3: A442A
PubMed Link: 25045597
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

Nature
Cruchaga, Carlos C; Karch, Celeste M CM; Jin, Sheng Chih SC; Benitez, Bruno A BA; Cai, Yefei Y; Guerreiro, Rita R; Harari, Oscar O; Norton, Joanne J; Budde, John J; Bertelsen, Sarah S; Jeng, Amanda T AT; Cooper, Breanna B; Skorupa, Tara T; Carrell, David D; Levitch, Denise D; Hsu, Simon S; Choi, Jiyoon J; Ryten, Mina M; Sassi, Celeste C; Bras, Jose J; Gibbs, Raphael J RJ; Hernandez, Dena G DG; Lupton, Michelle K MK; Powell, John J; Forabosco, Paola P; Ridge, Perry G PG; Corcoran, Christopher D CD; Tschanz, JoAnn T JT; Norton, Maria C MC; Munger, Ronald G RG; Schmutz, Cameron C; Leary, Maegan M; Demirci, F Yesim FY; Bamne, Mikhil N MN; Wang, Xingbin X; Lopez, Oscar L OL; Ganguli, Mary M; Medway, Christopher C; Turton, James J; Lord, Jenny J; Braae, Anne A; Barber, Imelda I; Brown, Kristelle K; , ; Pastor, Pau P; Lorenzo-Betancor, Oswaldo O; Brkanac, Zoran Z; Scott, Erick E; Topol, Eric E; Morgan, Kevin K; Rogaeva, Ekaterina E; Singleton, Andy A; Hardy, John J; Kamboh, M Ilyas MI; George-Hyslop, Peter St PS; Cairns, Nigel N; Morris, John C JC; Kauwe, John S K JSK; Goate, Alison M AM
Publication Date: 2014-01-23

Variant appearance in text: PLD3: A442A
PubMed Link: 24336208
Variant Present in the following documents:
  • Main text
View BVdb publication page