MC4R c.282C>A ;(p.S94R)

Variant ID: 18-58039301-G-T

NM_005912.2(MC4R):c.282C>A;(p.S94R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: S94R
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
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: Ser94Arg
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: S94R
PubMed Link: 20462274
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pertussis toxin-sensitive signaling of melanocortin-4 receptors in hypothalamic GT1-7 cells defines agouti-related protein as a biased agonist.

The Journal Of Biological Chemistry
Büch, Thomas R H TR; Heling, Dominik D; Damm, Ellen E; Gudermann, Thomas T; Breit, Andreas A
Publication Date: 2009-09-25

Variant appearance in text: MC4R: S94R
PubMed Link: 19648111
Variant Present in the following documents:
  • Main text
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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: S94R
PubMed Link: 19417090
Variant Present in the following documents:
View BVdb publication page



Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Endocrinology
Tan, Karen K; Pogozheva, Irina D ID; Yeo, Giles S H GS; Hadaschik, Dirk D; Keogh, Julia M JM; Haskell-Leuvano, Carrie C; O'Rahilly, Stephen S; Mosberg, Henry I HI; Farooqi, I Sadaf IS
Publication Date: 2009-01

Variant appearance in text: MC4R: S94R
PubMed Link: 18801902
Variant Present in the following documents:
  • Main text
View BVdb publication page