MC4R c.362T>C ;(p.I121T)

Variant ID: 18-58039221-A-G

NM_005912.2(MC4R):c.362T>C;(p.I121T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Lipocalin 2 - mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals.

Frontiers In Endocrinology
Zheng, Yiran Y; Rajcsanyi, Luisa Sophie LS; Kowalczyk, Manuela M; Giuranna, Johanna J; Herpertz-Dahlmann, Beate B; Seitz, Jochen J; de Zwaan, Martina M; Herzog, Wolfgang W; Ehrlich, Stefan S; Zipfel, Stephan S; Giel, Katrin K; Egberts, Karin K; Burghardt, Roland R; Föcker, Manuel M; Al-Lahham, Saad S; Hebebrand, Johannes J; Fuhrer, Dagmar D; Tan, Susanne S; Zwanziger, Denise D; Peters, Triinu T; Hinney, Anke A
Publication Date: 2023

Variant appearance in text: MC4R: Ile121Thr
PubMed Link: 37025415
Variant Present in the following documents:
  • Main text
  • DataSheet_1.xlsx, sheet 4
  • fendo-14-1137308.pdf
  • DataSheet_1.xlsx, sheet 12
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: MC4R: I121T
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Investigation of a genome wide association signal for obesity: synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus.

Plos One
Scherag, André A; Jarick, Ivonne I; Grothe, Jessica J; Biebermann, Heike H; Scherag, Susann S; Volckmar, Anna-Lena AL; Vogel, Carla Ivane Ganz CI; Greene, Brandon B; Hebebrand, Johannes J; Hinney, Anke A
Publication Date: 2010-11-15

Variant appearance in text: MC4R: Ile121Thr
PubMed Link: 21085626
Variant Present in the following documents:
  • Main text
  • pone.0013967.pdf
View BVdb publication page



Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist.

Biochemistry
Xiang, Zhimin Z; Proneth, Bettina B; Dirain, Marvin L ML; Litherland, Sally A SA; Haskell-Luevano, Carrie C
Publication Date: 2010-06-08

Variant appearance in text: MC4R: I121T
PubMed Link: 20462274
Variant Present in the following documents:
  • Main text
View BVdb publication page



In silico mutagenesis: a case study of the melanocortin 4 receptor.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Bromberg, Yana Y; Overton, John J; Vaisse, Christian C; Leibel, Rudolph L RL; Rost, Burkhard B
Publication Date: 2009-09

Variant appearance in text: MC4R: I121T
PubMed Link: 19417090
Variant Present in the following documents:
View BVdb publication page