MST1R c.1568A>T ;(p.Q523L)

Variant ID: 3-49936102-T-A

NM_002447.2(MST1R):c.1568A>T;(p.Q523L)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2230590
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs2230590
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs2230590
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
Publication Date: 2018-03-02

Variant appearance in text: rs2230590
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide analysis identifies 12 loci influencing human reproductive behavior.

Nature Genetics
Barban, Nicola N; Jansen, Rick R; de Vlaming, Ronald R; Vaez, Ahmad A; Mandemakers, Jornt J JJ; Tropf, Felix C FC; Shen, Xia X; Wilson, James F JF; Chasman, Daniel I DI; Nolte, Ilja M IM; Tragante, Vinicius V; van der Laan, Sander W SW; Perry, John R B JR; Kong, Augustine A; , ; Ahluwalia, Tarunveer S TS; Albrecht, Eva E; Yerges-Armstrong, Laura L; Atzmon, Gil G; Auro, Kirsi K; Ayers, Kristin K; Bakshi, Andrew A; Ben-Avraham, Danny D; Berger, Klaus K; Bergman, Aviv A; Bertram, Lars L; Bielak, Lawrence F LF; Bjornsdottir, Gyda G; Bonder, Marc Jan MJ; Broer, Linda L; Bui, Minh M; Barbieri, Caterina C; Cavadino, Alana A; Chavarro, Jorge E JE; Turman, Constance C; Concas, Maria Pina MP; Cordell, Heather J HJ; Davies, Gail G; Eibich, Peter P; Eriksson, Nicholas N; Esko, Tõnu T; Eriksson, Joel J; Falahi, Fahimeh F; Felix, Janine F JF; Fontana, Mark Alan MA; Franke, Lude L; Gandin, Ilaria I; Gaskins, Audrey J AJ; Gieger, Christian C; Gunderson, Erica P EP; Guo, Xiuqing X; Hayward, Caroline C; He, Chunyan C; Hofer, Edith E; Huang, Hongyan H; Joshi, Peter K PK; Kanoni, Stavroula S; Karlsson, Robert R; Kiechl, Stefan S; Kifley, Annette A; Kluttig, Alexander A; Kraft, Peter P; Lagou, Vasiliki V; Lecoeur, Cecile C; Lahti, Jari J; Li-Gao, Ruifang R; Lind, Penelope A PA; Liu, Tian T; Makalic, Enes E; Mamasoula, Crysovalanto C; Matteson, Lindsay L; Mbarek, Hamdi H; McArdle, Patrick F PF; McMahon, George G; Meddens, S Fleur W SF; Mihailov, Evelin E; Miller, Mike M; Missmer, Stacey A SA; Monnereau, Claire C; van der Most, Peter J PJ; Myhre, Ronny R; Nalls, Mike A MA; Nutile, Teresa T; Kalafati, Ioanna Panagiota IP; Porcu, Eleonora E; Prokopenko, Inga I; Rajan, Kumar B KB; Rich-Edwards, Janet J; Rietveld, Cornelius A CA; Robino, Antonietta A; Rose, Lynda M LM; Rueedi, Rico R; Ryan, Kathleen A KA; Saba, Yasaman Y; Schmidt, Daniel D; Smith, Jennifer A JA; Stolk, Lisette L; Streeten, Elizabeth E; Tönjes, Anke A; Thorleifsson, Gudmar G; Ulivi, Sheila S; Wedenoja, Juho J; Wellmann, Juergen J; Willeit, Peter P; Yao, Jie J; Yengo, Loic L; Zhao, Jing Hua JH; Zhao, Wei W; Zhernakova, Daria V DV; Amin, Najaf N; Andrews, Howard H; Balkau, Beverley B; Barzilai, Nir N; Bergmann, Sven S; Biino, Ginevra G; Bisgaard, Hans H; Bønnelykke, Klaus K; Boomsma, Dorret I DI; Buring, Julie E JE; Campbell, Harry H; Cappellani, Stefania S; Ciullo, Marina M; Cox, Simon R SR; Cucca, Francesco F; Toniolo, Daniela D; Davey-Smith, George G; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; van Duijn, Cornelia M CM; de Geus, Eco J C EJ; Eriksson, Johan G JG; Evans, Denis A DA; Faul, Jessica D JD; Sala, Cinzia Felicita CF; Froguel, Philippe P; Gasparini, Paolo P; Girotto, Giorgia G; Grabe, Hans-Jörgen HJ; Greiser, Karin Halina KH; Groenen, Patrick J F PJ; de Haan, Hugoline G HG; Haerting, Johannes J; Harris, Tamara B TB; Heath, Andrew C AC; Heikkilä, Kauko K; Hofman, Albert A; Homuth, Georg G; Holliday, Elizabeth G EG; Hopper, John J; Hyppönen, Elina E; Jacobsson, Bo B; Jaddoe, Vincent W V VW; Johannesson, Magnus M; Jugessur, Astanand A; Kähönen, Mika M; Kajantie, Eero E; Kardia, Sharon L R SL; Keavney, Bernard B; Kolcic, Ivana I; Koponen, Päivikki P; Kovacs, Peter P; Kronenberg, Florian F; Kutalik, Zoltan Z; La Bianca, Martina M; Lachance, Genevieve G; Iacono, William G WG; Lai, Sandra S; Lehtimäki, Terho T; Liewald, David C DC; , ; Lindgren, Cecilia M CM; Liu, Yongmei Y; Luben, Robert R; Lucht, Michael M; Luoto, Riitta R; Magnus, Per P; Magnusson, Patrik K E PK; Martin, Nicholas G NG; McGue, Matt M; McQuillan, Ruth R; Medland, Sarah E SE; Meisinger, Christa C; Mellström, Dan D; Metspalu, Andres A; Traglia, Michela M; Milani, Lili L; Mitchell, Paul P; Montgomery, Grant W GW; Mook-Kanamori, Dennis D; de Mutsert, Renée R; Nohr, Ellen A EA; Ohlsson, Claes C; Olsen, Jørn J; Ong, Ken K KK; Paternoster, Lavinia L; Pattie, Alison A; Penninx, Brenda W J H BW; Perola, Markus M; Peyser, Patricia A PA; Pirastu, Mario M; Polasek, Ozren O; Power, Chris C; Kaprio, Jaakko J; Raffel, Leslie J LJ; Räikkönen, Katri K; Raitakari, Olli O; Ridker, Paul M PM; Ring, Susan M SM; Roll, Kathryn K; Rudan, Igor I; Ruggiero, Daniela D; Rujescu, Dan D; Salomaa, Veikko V; Schlessinger, David D; Schmidt, Helena H; Schmidt, Reinhold R; Schupf, Nicole N; Smit, Johannes J; Sorice, Rossella R; Spector, Tim D TD; Starr, John M JM; Stöckl, Doris D; Strauch, Konstantin K; Stumvoll, Michael M; Swertz, Morris A MA; Thorsteinsdottir, Unnur U; Thurik, A Roy AR; Timpson, Nicholas J NJ; Tung, Joyce Y JY; Uitterlinden, André G AG; Vaccargiu, Simona S; Viikari, Jorma J; Vitart, Veronique V; Völzke, Henry H; Vollenweider, Peter P; Vuckovic, Dragana D; Waage, Johannes J; Wagner, Gert G GG; Wang, Jie Jin JJ; Wareham, Nicholas J NJ; Weir, David R DR; Willemsen, Gonneke G; Willeit, Johann J; Wright, Alan F AF; Zondervan, Krina T KT; Stefansson, Kari K; Krueger, Robert F RF; Lee, James J JJ; Benjamin, Daniel J DJ; Cesarini, David D; Koellinger, Philipp D PD; den Hoed, Marcel M; Snieder, Harold H; Mills, Melinda C MC
Publication Date: 2016-12

Variant appearance in text: rs2230590
PubMed Link: 27798627
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2230590
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs2230590
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
View BVdb publication page



Discovery and refinement of loci associated with lipid levels.

Nature Genetics
Willer, Cristen J CJ; Schmidt, Ellen M EM; Sengupta, Sebanti S; Peloso, Gina M GM; Gustafsson, Stefan S; Kanoni, Stavroula S; Ganna, Andrea A; Chen, Jin J; Buchkovich, Martin L ML; Mora, Samia S; Beckmann, Jacques S JS; Bragg-Gresham, Jennifer L JL; Chang, Hsing-Yi HY; Demirkan, Ayşe A; Den Hertog, Heleen M HM; Do, Ron R; Donnelly, Louise A LA; Ehret, Georg B GB; Esko, Tõnu T; Feitosa, Mary F MF; Ferreira, Teresa T; Fischer, Krista K; Fontanillas, Pierre P; Fraser, Ross M RM; Freitag, Daniel F DF; Gurdasani, Deepti D; Heikkilä, Kauko K; Hyppönen, Elina E; Isaacs, Aaron A; Jackson, Anne U AU; Johansson, Åsa Å; Johnson, Toby T; Kaakinen, Marika M; Kettunen, Johannes J; Kleber, Marcus E ME; Li, Xiaohui X; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; Magnusson, Patrik K E PKE; Mangino, Massimo M; Mihailov, Evelin E; Montasser, May E ME; Müller-Nurasyid, Martina M; Nolte, Ilja M IM; O'Connell, Jeffrey R JR; Palmer, Cameron D CD; Perola, Markus M; Petersen, Ann-Kristin AK; Sanna, Serena S; Saxena, Richa R; Service, Susan K SK; Shah, Sonia S; Shungin, Dmitry D; Sidore, Carlo C; Song, Ci C; Strawbridge, Rona J RJ; Surakka, Ida I; Tanaka, Toshiko T; Teslovich, Tanya M TM; Thorleifsson, Gudmar G; Van den Herik, Evita G EG; Voight, Benjamin F BF; Volcik, Kelly A KA; Waite, Lindsay L LL; Wong, Andrew A; Wu, Ying Y; Zhang, Weihua W; Absher, Devin D; Asiki, Gershim G; Barroso, Inês I; Been, Latonya F LF; Bolton, Jennifer L JL; Bonnycastle, Lori L LL; Brambilla, Paolo P; Burnett, Mary S MS; Cesana, Giancarlo G; Dimitriou, Maria M; Doney, Alex S F ASF; Döring, Angela A; Elliott, Paul P; Epstein, Stephen E SE; Ingi Eyjolfsson, Gudmundur G; Gigante, Bruna B; Goodarzi, Mark O MO; Grallert, Harald H; Gravito, Martha L ML; Groves, Christopher J CJ; Hallmans, Göran G; Hartikainen, Anna-Liisa AL; Hayward, Caroline C; Hernandez, Dena D; Hicks, Andrew A AA; Holm, Hilma H; Hung, Yi-Jen YJ; Illig, Thomas T; Jones, Michelle R MR; Kaleebu, Pontiano P; Kastelein, John J P JJP; Khaw, Kay-Tee KT; Kim, Eric E; Klopp, Norman N; Komulainen, Pirjo P; Kumari, Meena M; Langenberg, Claudia C; Lehtimäki, Terho T; Lin, Shih-Yi SY; Lindström, Jaana J; Loos, Ruth J F RJF; Mach, François F; McArdle, Wendy L WL; Meisinger, Christa C; Mitchell, Braxton D BD; Müller, Gabrielle G; Nagaraja, Ramaiah R; Narisu, Narisu N; Nieminen, Tuomo V M TVM; Nsubuga, Rebecca N RN; Olafsson, Isleifur I; Ong, Ken K KK; Palotie, Aarno A; Papamarkou, Theodore T; Pomilla, Cristina C; Pouta, Anneli A; Rader, Daniel J DJ; Reilly, Muredach P MP; Ridker, Paul M PM; Rivadeneira, Fernando F; Rudan, Igor I; Ruokonen, Aimo A; Samani, Nilesh N; Scharnagl, Hubert H; Seeley, Janet J; Silander, Kaisa K; Stančáková, Alena A; Stirrups, Kathleen K; Swift, Amy J AJ; Tiret, Laurence L; Uitterlinden, Andre G AG; van Pelt, L Joost LJ; Vedantam, Sailaja S; Wainwright, Nicholas N; Wijmenga, Cisca C; Wild, Sarah H SH; Willemsen, Gonneke G; Wilsgaard, Tom T; Wilson, James F JF; Young, Elizabeth H EH; Zhao, Jing Hua JH; Adair, Linda S LS; Arveiler, Dominique D; Assimes, Themistocles L TL; Bandinelli, Stefania S; Bennett, Franklyn F; Bochud, Murielle M; Boehm, Bernhard O BO; Boomsma, Dorret I DI; Borecki, Ingrid B IB; Bornstein, Stefan R SR; Bovet, Pascal P; Burnier, Michel M; Campbell, Harry H; Chakravarti, Aravinda A; Chambers, John C JC; Chen, Yii-Der Ida YI; Collins, Francis S FS; Cooper, Richard S RS; Danesh, John J; Dedoussis, George G; de Faire, Ulf U; Feranil, Alan B AB; Ferrières, Jean J; Ferrucci, Luigi L; Freimer, Nelson B NB; Gieger, Christian C; Groop, Leif C LC; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hamsten, Anders A; Harris, Tamara B TB; Hingorani, Aroon A; Hirschhorn, Joel N JN; Hofman, Albert A; Hovingh, G Kees GK; Hsiung, Chao Agnes CA; Humphries, Steve E SE; Hunt, Steven C SC; Hveem, Kristian K; Iribarren, Carlos C; Järvelin, Marjo-Riitta MR; Jula, Antti A; Kähönen, Mika M; Kaprio, Jaakko J; Kesäniemi, Antero A; Kivimaki, Mika M; Kooner, Jaspal S JS; Koudstaal, Peter J PJ; Krauss, Ronald M RM; Kuh, Diana D; Kuusisto, Johanna J; Kyvik, Kirsten O KO; Laakso, Markku M; Lakka, Timo A TA; Lind, Lars L; Lindgren, Cecilia M CM; Martin, Nicholas G NG; März, Winfried W; McCarthy, Mark I MI; McKenzie, Colin A CA; Meneton, Pierre P; Metspalu, Andres A; Moilanen, Leena L; Morris, Andrew D AD; Munroe, Patricia B PB; Njølstad, Inger I; Pedersen, Nancy L NL; Power, Chris C; Pramstaller, Peter P PP; Price, Jackie F JF; Psaty, Bruce M BM; Quertermous, Thomas T; Rauramaa, Rainer R; Saleheen, Danish D; Salomaa, Veikko V; Sanghera, Dharambir K DK; Saramies, Jouko J; Schwarz, Peter E H PEH; Sheu, Wayne H-H WH; Shuldiner, Alan R AR; Siegbahn, Agneta A; Spector, Tim D TD; Stefansson, Kari K; Strachan, David P DP; Tayo, Bamidele O BO; Tremoli, Elena E; Tuomilehto, Jaakko J; Uusitupa, Matti M; van Duijn, Cornelia M CM; Vollenweider, Peter P; Wallentin, Lars L; Wareham, Nicholas J NJ; Whitfield, John B JB; Wolffenbuttel, Bruce H R BHR; Ordovas, Jose M JM; Boerwinkle, Eric E; Palmer, Colin N A CNA; Thorsteinsdottir, Unnur U; Chasman, Daniel I DI; Rotter, Jerome I JI; Franks, Paul W PW; Ripatti, Samuli S; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Rich, Stephen S SS; Boehnke, Michael M; Deloukas, Panos P; Kathiresan, Sekar S; Mohlke, Karen L KL; Ingelsson, Erik E; Abecasis, Gonçalo R GR; ,
Publication Date: 2013-11

Variant appearance in text: rs2230590
PubMed Link: 24097068
Variant Present in the following documents:
  • NIHMS524703-supplement-1.pdf
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: rs2230590
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



RON (MST1R) is a novel prognostic marker and therapeutic target for gastroesophageal adenocarcinoma.

Cancer Biology & Therapy
Catenacci, Daniel V T DV; Cervantes, Gustavo G; Yala, Soheil S; Nelson, Erik A EA; El-Hashani, Essam E; Kanteti, Rajani R; El Dinali, Mohamed M; Hasina, Rifat R; Brägelmann, Johannes J; Seiwert, Tanguy T; Sanicola, Michele M; Henderson, Les L; Grushko, Tatyana A TA; Olopade, Olufunmilayo O; Karrison, Theodore T; Bang, Yung-Jue YJ; Kim, Woo Ho WH; Tretiakova, Maria M; Vokes, Everett E; Frank, David A DA; Kindler, Hedy L HL; Huet, Heather H; Salgia, Ravi R
Publication Date: 2011-07-01

Variant appearance in text: rs2230590
PubMed Link: 21543897
Variant Present in the following documents:
  • Main text
View BVdb publication page