MC4R c.282C>T ;(p.S94=)

Variant ID: 18-58039301-G-A

NM_005912.2(MC4R):c.282C>T;(p.S94=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: MC4R: S94S; rs13447327
PubMed Link: 32952152
Variant Present in the following documents:
  • 41366_2020_675_MOESM1_ESM.xlsx, sheet 4
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: MC4R: S94S
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 52
View BVdb publication page