MTNR1A c.160C>T ;(p.R54W)

Variant ID: 4-187476360-G-A

NM_005958.3(MTNR1A):c.160C>T;(p.R54W)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Identification of Key Regions Mediating Human Melatonin Type 1 Receptor Functional Selectivity Revealed by Natural Variants.

Acs Pharmacology & Translational Science
Hegron, Alan A; Huh, Eunna E; Deupi, Xavier X; Sokrat, Badr B; Gao, Wenwen W; Le Gouill, Christian C; Canouil, Mickaël M; Boissel, Mathilde M; Charpentier, Guillaume G; Roussel, Ronan R; Balkau, Beverley B; Froguel, Philippe P; Plouffe, Bianca B; Bonnefond, Amélie A; Lichtarge, Olivier O; Jockers, Ralf R; Bouvier, Michel M
Publication Date: 2021-10-08

Variant appearance in text: MTNR1A: R54W
PubMed Link: 34661078
Variant Present in the following documents:
  • Main text
  • pt1c00157.pdf
  • pt1c00157_si_001.pdf
View BVdb publication page



Association between the Arylalkylamine N-Acetyltransferase (AANAT) Gene and Seasonality in Patients with Bipolar Disorder.

Psychiatry Investigation
Yang, So Yung SY; Hong, Kyung Sue KS; Cho, Youngah Y; Cho, Eun-Young EY; Choi, Yujin Y; Kim, Yongkang Y; Park, Taesung T; Ha, Kyooseob K; Baek, Ji Hyun JH
Publication Date: 2021-05

Variant appearance in text: rs1800885
PubMed Link: 33993688
Variant Present in the following documents:
  • Main text
  • pi-2020-0436.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: MTNR1A: R54W
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 47
View BVdb publication page



Update on melatonin receptors: IUPHAR Review 20.

British Journal Of Pharmacology
Jockers, Ralf R; Delagrange, Philippe P; Dubocovich, Margarita L ML; Markus, Regina P RP; Renault, Nicolas N; Tosini, Gianluca G; Cecon, Erika E; Zlotos, Darius P DP
Publication Date: 2016-09

Variant appearance in text: MTNR1A: R54W
PubMed Link: 27314810
Variant Present in the following documents:
  • Main text
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: MTNR1A: R54W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Population-specific common SNPs reflect demographic histories and highlight regions of genomic plasticity with functional relevance.

Bmc Genomics
Choudhury, Ananyo A; Hazelhurst, Scott S; Meintjes, Ayton A; Achinike-Oduaran, Ovokeraye O; Aron, Shaun S; Gamieldien, Junaid J; Jalali Sefid Dashti, Mahjoubeh M; Mulder, Nicola N; Tiffin, Nicki N; Ramsay, Michèle M
Publication Date: 2014-06-06

Variant appearance in text: rs1800885
PubMed Link: 24906912
Variant Present in the following documents:
  • Main text
  • 12864_2013_Article_6211.pdf
View BVdb publication page