NPY1R c.1121A>C ;(p.K374T)

Variant ID: 4-164246489-T-G

NM_000909.5(NPY1R):c.1121A>C;(p.K374T)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: NPY1R: K374T
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Neuropeptide Y as a risk factor for cardiorenal disease and cognitive dysfunction in CKD: translational opportunities and challenges.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Zoccali, Carmine C; Ortiz, Alberto A; Blumbyte, Inga Arune IA; Rudolf, Sarina S; Beck-Sickinger, Annette G AG; Malyszko, Jolanta J; Spasovski, Goce G; Carriazo, Sol S; Viggiano, Davide D; Kurganaite, Justina J; Sarkeviciene, Vaiva V; Rastenyte, Daiva D; Figurek, Andreja A; Rroji, Merita M; Mayer, Christopher C; Arici, Mustapha M; Martino, Gianvito G; Tedeschi, Gioacchino G; Bruchfeld, Annette A; Spoto, Belinda B; Rychlik, Ivan I; Wiecek, Andrzej A; Okusa, Mark M; Remuzzi, Giuseppe G; Mallamaci, Francesca F; ,
Publication Date: 2021-11-01

Variant appearance in text: rs5578
PubMed Link: 34724060
Variant Present in the following documents:
  • Main text
  • gfab284.pdf
View BVdb publication page



Neuropeptide Y as a risk factor for cardiorenal disease and cognitive dysfunction in chronic kidney disease: translational opportunities and challenges.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Zoccali, Carmine C; Ortiz, Alberto A; Blumbyte, Inga Arune IA; Rudolf, Sarina S; Beck-Sickinger, Annette G AG; Malyszko, Jolanta J; Spasovski, Goce G; Carriazo, Sol S; Viggiano, Davide D; Kurganaite, Justina J; Sarkeviciene, Vaiva V; Rastenyte, Daiva D; Figurek, Andreja A; Rroji, Merita M; Mayer, Christopher C; Arici, Mustapha M; Martino, Gianvito G; Tedeschi, Gioacchino G; Bruchfeld, Annette A; Spoto, Belinda B; Rychlik, Ivan I; Wiecek, Andrzej A; Okusa, Mark M; Remuzzi, Giuseppe G; Mallamaci, Francesca F; ,
Publication Date: 2021-12-28

Variant appearance in text: rs5578
PubMed Link: 34724060
Variant Present in the following documents:
  • Main text
  • gfab284.pdf
View BVdb publication page



Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals.

Genes
Ginete, Catarina C; Serrasqueiro, Bernardo B; Silva-Nunes, José J; Veiga, Luísa L; Brito, Miguel M
Publication Date: 2021-04-19

Variant appearance in text: NPY1R: 1121A>C; Lys374Thr; rs5578
PubMed Link: 33921825
Variant Present in the following documents:
  • Main text
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: NPY1R: 1121A>C; Lys374Thr
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
View BVdb publication page



A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants.

The Journal Of Headache And Pain
Bacchelli, Elena E; Cainazzo, Maria Michela MM; Cameli, Cinzia C; Guerzoni, Simona S; Martinelli, Angela A; Zoli, Michele M; Maestrini, Elena E; Pini, Luigi Alberto LA
Publication Date: 2016-12

Variant appearance in text: NPY1R: K374T; rs5578
PubMed Link: 27957625
Variant Present in the following documents:
  • Main text
  • 10194_2016_Article_705.pdf
View BVdb publication page



Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Scientific Reports
Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G
Publication Date: 2016-08-22

Variant appearance in text: NPY1R: K374T
PubMed Link: 27545006
Variant Present in the following documents:
  • srep31628-s2.xls, sheet 2
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: NPY1R: 1121A>C; K374T; rs5578
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: NPY1R: K374T; rs5578
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 11
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs5578
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: NPY1R: K374T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: NPY1R: K374T; rs5578
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology
Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R
Publication Date: 2014-09

Variant appearance in text: NPY1R: K374T
PubMed Link: 25188385
Variant Present in the following documents:
  • pcbi.1003825.s014.xlsx, sheet 1
View BVdb publication page