MC4R c.731C>A ;(p.A244E)

Variant ID: 18-58038852-G-T

NM_005912.2(MC4R):c.731C>A;(p.A244E)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.

Cell
Weedon, Michael N MN; Wright, Caroline F CF; Patel, Kashyap A KA; Frayling, Timothy M TM
Publication Date: 2021-04-01

Variant appearance in text: MC4R: A244E
PubMed Link: 33798434
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: MC4R: A244E
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.

International Journal Of Obesity (2005)
Namjou, Bahram B; Stanaway, Ian B IB; Lingren, Todd T; Mentch, Frank D FD; Benoit, Barbara B; Dikilitas, Ozan O; Niu, Xinnan X; Shang, Ning N; Shoemaker, Ashley H AH; Carey, David J DJ; Mirshahi, Tooraj T; Singh, Rajbir R; Nestor, Jordan G JG; Hakonarson, Hakon H; Denny, Joshua C JC; Crosslin, David R DR; Jarvik, Gail P GP; Kullo, Iftikhar J IJ; Williams, Marc S MS; , ; Harley, John B JB
Publication Date: 2021-01

Variant appearance in text: rs13447335
PubMed Link: 32952152
Variant Present in the following documents:
  • 41366_2020_675_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population.

Plos Medicine
Chami, Nathalie N; Preuss, Michael M; Walker, Ryan W RW; Moscati, Arden A; Loos, Ruth J F RJF
Publication Date: 2020-07

Variant appearance in text: rs13447335
PubMed Link: 32692746
Variant Present in the following documents:
  • pmed.1003196.s001.pdf
View BVdb publication page



Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.

Cell
Lotta, Luca A LA; Mokrosiński, Jacek J; Mendes de Oliveira, Edson E; Li, Chen C; Sharp, Stephen J SJ; Luan, Jian'an J; Brouwers, Bas B; Ayinampudi, Vikram V; Bowker, Nicholas N; Kerrison, Nicola N; Kaimakis, Vasileios V; Hoult, Diana D; Stewart, Isobel D ID; Wheeler, Eleanor E; Day, Felix R FR; Perry, John R B JRB; Langenberg, Claudia C; Wareham, Nicholas J NJ; Farooqi, I Sadaf IS
Publication Date: 2019-04-18

Variant appearance in text: MC4R: A244E
PubMed Link: 31002796
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
  • mmc5.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: MC4R: A244E
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.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: Ala244Glu
PubMed Link: 21085626
Variant Present in the following documents:
  • Main text
  • pone.0013967.pdf
View BVdb publication page



Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

Diabetes
Stutzmann, Fanny F; Tan, Karen K; Vatin, Vincent V; Dina, Christian C; Jouret, Béatrice B; Tichet, Jean J; Balkau, Beverley B; Potoczna, Natascha N; Horber, Fritz F; O'Rahilly, Stephen S; Farooqi, I Sadaf IS; Froguel, Philippe P; Meyre, David D
Publication Date: 2008-09

Variant appearance in text: MC4R: A244E
PubMed Link: 18559663
Variant Present in the following documents:
  • Main text
  • 2511.pdf
View BVdb publication page