KSR2 c.1661G>A ;(p.R554Q)

Variant ID: 12-117977550-C-T

NM_173598.6(KSR2):c.1661G>A;(p.R554Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The genetics of obesity: from discovery to biology.

Nature Reviews. Genetics
Loos, Ruth J F RJF; Yeo, Giles S H GSH
Publication Date: 2022-02

Variant appearance in text: rs56214831
PubMed Link: 34556834
Variant Present in the following documents:
  • Main text
  • 41576_2021_Article_414.pdf
View BVdb publication page



The genetics of obesity: from discovery to biology.

Nature Reviews. Genetics
Loos, Ruth J F RJF; Yeo, Giles S H GSH
Publication Date: 2021-09-23

Variant appearance in text: rs56214831
PubMed Link: 34556834
Variant Present in the following documents:
  • Main text
  • 41576_2021_Article_414.pdf
View BVdb publication page



Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs56214831
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



Genetics of Severe Obesity.

Current Diabetes Reports
Fairbrother, Una U; Kidd, Elliot E; Malagamuwa, Tanya T; Walley, Andrew A
Publication Date: 2018-08-18

Variant appearance in text: rs56214831
PubMed Link: 30121879
Variant Present in the following documents:
  • Main text
  • 11892_2018_Article_1053.pdf
View BVdb publication page



Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Nature Genetics
Turcot, Valérie V; Lu, Yingchang Y; Highland, Heather M HM; Schurmann, Claudia C; Justice, Anne E AE; Fine, Rebecca S RS; Bradfield, Jonathan P JP; Esko, Tõnu T; Giri, Ayush A; Graff, Mariaelisa M; Guo, Xiuqing X; Hendricks, Audrey E AE; Karaderi, Tugce T; Lempradl, Adelheid A; Locke, Adam E AE; Mahajan, Anubha A; Marouli, Eirini E; Sivapalaratnam, Suthesh S; Young, Kristin L KL; Alfred, Tamuno T; Feitosa, Mary F MF; Masca, Nicholas G D NGD; Manning, Alisa K AK; Medina-Gomez, Carolina C; Mudgal, Poorva P; Ng, Maggie C Y MCY; Reiner, Alex P AP; Vedantam, Sailaja S; Willems, Sara M SM; Winkler, Thomas W TW; Abecasis, Gonçalo G; Aben, Katja K KK; Alam, Dewan S DS; Alharthi, Sameer E SE; Allison, Matthew M; Amouyel, Philippe P; Asselbergs, Folkert W FW; Auer, Paul L PL; Balkau, Beverley B; Bang, Lia E LE; Barroso, Inês I; Bastarache, Lisa L; Benn, Marianne M; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boehnke, Michael M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bork-Jensen, Jette J; Bots, Michiel L ML; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Breen, Gerome G; Brilliant, Murray H MH; Broer, Linda L; Brumat, Marco M; Burt, Amber A AA; Butterworth, Adam S AS; Campbell, Peter T PT; Cappellani, Stefania S; Carey, David J DJ; Catamo, Eulalia E; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der I YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Cocca, Massimiliano M; Collins, Francis S FS; Cook, James P JP; Corley, Janie J; Corominas Galbany, Jordi J; Cox, Amanda J AJ; Crosslin, David S DS; Cuellar-Partida, Gabriel G; D'Eustacchio, Angela A; Danesh, John J; Davies, Gail G; Bakker, Paul I W PIW; Groot, Mark C H MCH; Mutsert, Renée R; Deary, Ian J IJ; Dedoussis, George G; Demerath, Ellen W EW; Heijer, Martin M; Hollander, Anneke I AI; Ruijter, Hester M HM; Dennis, Joe G JG; Denny, Josh C JC; Di Angelantonio, Emanuele E; Drenos, Fotios F; Du, Mengmeng M; Dubé, Marie-Pierre MP; Dunning, Alison M AM; Easton, Douglas F DF; Edwards, Todd L TL; Ellinghaus, David D; Ellinor, Patrick T PT; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Farooqi, I Sadaf IS; Faul, Jessica D JD; Fauser, Sascha S; Feng, Shuang S; Ferrannini, Ele E; Ferrieres, Jean J; Florez, Jose C JC; Ford, Ian I; Fornage, Myriam M; Franco, Oscar H OH; Franke, Andre A; Franks, Paul W PW; Friedrich, Nele N; Frikke-Schmidt, Ruth R; Galesloot, Tessel E TE; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Gibson, Jane J; Giedraitis, Vilmantas V; Gjesing, Anette P AP; Gordon-Larsen, Penny P; Gorski, Mathias M; Grabe, Hans-Jörgen HJ; Grant, Struan F A SFA; Grarup, Niels N; Griffiths, Helen L HL; Grove, Megan L ML; Gudnason, Vilmundur V; Gustafsson, Stefan S; Haessler, Jeff J; Hakonarson, Hakon H; Hammerschlag, Anke R AR; Hansen, Torben T; Harris, Kathleen Mullan KM; Harris, Tamara B TB; Hattersley, Andrew T AT; Have, Christian T CT; Hayward, Caroline C; He, Liang L; Heard-Costa, Nancy L NL; Heath, Andrew C AC; Heid, Iris M IM; Helgeland, Øyvind Ø; Hernesniemi, Jussi J; Hewitt, Alex W AW; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JMM; Hu, Yao Y; Huang, Paul L PL; Huffman, Jennifer E JE; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jansson, Jan-Håkan JH; Jarvik, Gail P GP; Jensen, Gorm B GB; Jia, Yucheng Y; Johansson, Stefan S; Jørgensen, Marit E ME; Jørgensen, Torben T; Jukema, J Wouter JW; Kahali, Bratati B; Kahn, René S RS; Kähönen, Mika M; Kamstrup, Pia R PR; Kanoni, Stavroula S; Kaprio, Jaakko J; Karaleftheri, Maria M; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kathiresan, Sekar S; Kee, Frank F; Kiemeney, Lambertus A LA; Kim, Eric E; Kitajima, Hidetoshi H; Komulainen, Pirjo P; Kooner, Jaspal S JS; Kooperberg, Charles C; Korhonen, Tellervo T; Kovacs, Peter P; Kuivaniemi, Helena H; Kutalik, Zoltán Z; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lamparter, David D; Lange, Ethan M EM; Lange, Leslie A LA; Langenberg, Claudia C; Larson, Eric B EB; Lee, Nanette R NR; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Honghuang H; Lin, Keng-Hung KH; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Dajiang J DJ; Liu, Yongmei Y; Lo, Ken S KS; Lophatananon, Artitaya A; Lotery, Andrew J AJ; Loukola, Anu A; Luan, Jian'an J; Lubitz, Steven A SA; Lyytikäinen, Leo-Pekka LP; Männistö, Satu S; Marenne, Gaëlle G; Mazul, Angela L AL; McCarthy, Mark I MI; McKean-Cowdin, Roberta R; Medland, Sarah E SE; Meidtner, Karina K; Milani, Lili L; Mistry, Vanisha V; Mitchell, Paul P; Mohlke, Karen L KL; Moilanen, Leena L; Moitry, Marie M; Montgomery, Grant W GW; Mook-Kanamori, Dennis O DO; Moore, Carmel C; Mori, Trevor A TA; Morris, Andrew D AD; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Nalls, Mike A MA; Narisu, Narisu N; Nelson, Christopher P CP; Neville, Matt M; Nielsen, Sune F SF; Nikus, Kjell K; Njølstad, Pål R PR; Nordestgaard, Børge G BG; Nyholt, Dale R DR; O'Connel, Jeffrey R JR; O'Donoghue, Michelle L ML; Olde Loohuis, Loes M LM; Ophoff, Roel A RA; Owen, Katharine R KR; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pasterkamp, Gerard G; Patel, Aniruddh P AP; Pattie, Alison A; Pedersen, Oluf O; Peissig, Peggy L PL; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JRB; Pers, Tune H TH; Person, Thomas N TN; Peters, Annette A; Petersen, Eva R B ERB; Peyser, Patricia A PA; Pirie, Ailith A; Polasek, Ozren O; Polderman, Tinca J TJ; Puolijoki, Hannu H; Raitakari, Olli T OT; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Renström, Frida F; Rheinberger, Myriam M; Ridker, Paul M PM; Rioux, John D JD; Rivas, Manuel A MA; Roberts, David J DJ; Robertson, Neil R NR; Robino, Antonietta A; Rolandsson, Olov O; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Sapkota, Yadav Y; Sattar, Naveed N; Schoen, Robert E RE; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo P MP; Shah, Svati H SH; Sheu, Wayne H-H WH; Sim, Xueling X; Slater, Andrew J AJ; Small, Kerrin S KS; Smith, Albert V AV; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Stefansson, Kari K; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen E KE; Strauch, Konstantin K; Stringham, Heather M HM; Stumvoll, Michael M; Sun, Liang L; Surendran, Praveen P; Swift, Amy J AJ; Tada, Hayato H; Tansey, Katherine E KE; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Tromp, Gerard G; Trompet, Stella S; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Tybjaerg-Hansen, Anne A; Tyrer, Jonathan P JP; Uher, Rudolf R; Uitterlinden, André G AG; Uusitupa, Matti M; Laan, Sander W SW; Duijn, Cornelia M CM; Leeuwen, Nienke N; van Setten, Jessica J; Vanhala, Mauno M; Varbo, Anette A; Varga, Tibor V TV; Varma, Rohit R; Velez Edwards, Digna R DR; Vermeulen, Sita H SH; Veronesi, Giovanni G; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Völker, Uwe U; Vuckovic, Dragana D; Wagenknecht, Lynne E LE; Walker, Mark M; Wallentin, Lars L; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wang, Yiqin Y; Ware, Erin B EB; Wareham, Nicholas J NJ; Warren, Helen R HR; Waterworth, Dawn M DM; Wessel, Jennifer J; White, Harvey D HD; Willer, Cristen J CJ; Wilson, James G JG; Witte, Daniel R DR; Wood, Andrew R AR; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yao, Pang P; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zhao, Wei W; Zhou, Wei W; Zondervan, Krina T KT; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Rotter, Jerome I JI; Pospisilik, John A JA; Rivadeneira, Fernando F; Borecki, Ingrid B IB; Deloukas, Panos P; Frayling, Timothy M TM; Lettre, Guillaume G; North, Kari E KE; Lindgren, Cecilia M CM; Hirschhorn, Joel N JN; Loos, Ruth J F RJF
Publication Date: 2018-01

Variant appearance in text: KSR2: 1574G>A; Arg525Gln; rs56214831
PubMed Link: 29273807
Variant Present in the following documents:
  • Main text
  • NIHMS920811-supplement-2.xlsx, sheet 25
  • nihms920811.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: KSR2: R525Q; rs56214831
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page