NDUFAF2 c.127+32714C>A

Variant ID: 5-60273923-C-A

NM_174889.4(NDUFAF2):c.127+32714C>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genetics of Neurogenic Orthostatic Hypotension in Parkinson's Disease, Results from a Cross-Sectional In Silico Study.

Brain Sciences
Chevalier, Guenson G; Udovin, Lucas L; Otero-Losada, Matilde M; Bordet, Sofia S; Capani, Francisco F; Luo, Sheng S; Goetz, Christopher G CG; Perez-Lloret, Santiago S
Publication Date: 2023-03-17

Variant appearance in text: rs2694528
PubMed Link: 36979316
Variant Present in the following documents:
  • brainsci-13-00506.pdf
View BVdb publication page



Variable Effects of PD-Risk Associated SNPs and Variants in Parkinsonism-Associated Genes on Disease Phenotype in a Community-Based Cohort.

Frontiers In Neurology
Markopoulou, Katerina K; Chase, Bruce A BA; Premkumar, Ashvini P AP; Schoneburg, Bernadette B; Kartha, Ninith N; Wei, Jun J; Yu, Hongjie H; Epshteyn, Alexander A; Garduno, Lisette L; Pham, Anna A; Vazquez, Rosa R; Frigerio, Roberta R; Maraganore, Demetrius D
Publication Date: 2021

Variant appearance in text: rs2694528
PubMed Link: 33935957
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.

Frontiers In Neurology
Germer, Elisabeth Luisa EL; Imhoff, Sophie S; Vilariño-Güell, Carles C; Kasten, Meike M; Seibler, Philip P; Brüggemann, Norbert N; , ; Klein, Christine C; Trinh, Joanne J
Publication Date: 2019

Variant appearance in text: rs2694528
PubMed Link: 31920912
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Evaluation of the Common Molecular Basis in Alzheimer's and Parkinson's Diseases.

International Journal Of Molecular Sciences
Rana, Pratip P; Franco, Edian F EF; Rao, Yug Y; Syed, Khajamoinuddin K; Barh, Debmalya D; Azevedo, Vasco V; Ramos, Rommel T J RTJ; Ghosh, Preetam P
Publication Date: 2019-07-30

Variant appearance in text: rs2694528
PubMed Link: 31366155
Variant Present in the following documents:
  • Main text
  • ijms-20-03730.pdf
View BVdb publication page



Association of GALC, ZNF184, IL1R2 and ELOVL7 With Parkinson's Disease in Southern Chinese.

Frontiers In Aging Neuroscience
Li, Gen G; Cui, Shishuang S; Du, Juanjuan J; Liu, Jin J; Zhang, Pingchen P; Fu, Yang Y; He, Yixi Y; Zhou, Haiyan H; Ma, Jianfang J; Chen, Shengdi S
Publication Date: 2018

Variant appearance in text: rs2694528
PubMed Link: 30618709
Variant Present in the following documents:
  • Main text
View BVdb publication page



Parkinson's disease and Alzheimer's disease: a Mendelian randomization study.

Bmc Medical Genetics
Han, Zhifa Z; Tian, Rui R; Ren, Peng P; Zhou, Wenyang W; Wang, Pingping P; Luo, Meng M; Jin, Shuilin S; Jiang, Qinghua Q
Publication Date: 2018-12-31

Variant appearance in text: rs2694528
PubMed Link: 30598082
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_721.pdf
View BVdb publication page



A new hypothesis for Parkinson's disease pathogenesis: GTPase-p38 MAPK signaling and autophagy as convergence points of etiology and genomics.

Molecular Neurodegeneration
Obergasteiger, Julia J; Frapporti, Giulia G; Pramstaller, Peter P PP; Hicks, Andrew A AA; Volta, Mattia M
Publication Date: 2018-08-02

Variant appearance in text: rs2694528
PubMed Link: 30071902
Variant Present in the following documents:
  • Main text
  • 13024_2018_Article_273.pdf
View BVdb publication page



Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson Disease.

American Journal Of Human Genetics
Hook, Paul W PW; McClymont, Sarah A SA; Cannon, Gabrielle H GH; Law, William D WD; Morton, A Jennifer AJ; Goff, Loyal A LA; McCallion, Andrew S AS
Publication Date: 2018-03-01

Variant appearance in text: rs2694528
PubMed Link: 29499164
Variant Present in the following documents:
  • Main text
View BVdb publication page



A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.

Nature Genetics
Chang, Diana D; Nalls, Mike A MA; Hallgrímsdóttir, Ingileif B IB; Hunkapiller, Julie J; van der Brug, Marcel M; Cai, Fang F; , ; , ; Kerchner, Geoffrey A GA; Ayalon, Gai G; Bingol, Baris B; Sheng, Morgan M; Hinds, David D; Behrens, Timothy W TW; Singleton, Andrew B AB; Bhangale, Tushar R TR; Graham, Robert R RR
Publication Date: 2017-10

Variant appearance in text: rs2694528
PubMed Link: 28892059
Variant Present in the following documents:
  • Main text
View BVdb publication page