NOTCH1 c.6853G>A ;(p.V2285I)

Variant ID: 9-139391338-C-T

NM_017617.3(NOTCH1):c.6853G>A;(p.V2285I)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Publication Date: 2021-03

Variant appearance in text: NOTCH1: 6853G>A; Val2285Ile; rs61751489
PubMed Link: 33402737
Variant Present in the following documents:
  • 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: NOTCH1: 6853G>A; V2285I; rs61751489
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM8_ESM.xls, sheet 1
  • 12920_2020_668_MOESM7_ESM.xls, sheet 1
View BVdb publication page



Unravelling the Pathogenetic Mechanisms in Congenital Aortopathies: Need for an Integrative Translational Approach.

Journal Of Clinical Medicine
Girdauskas, Evaldas E; Kaemmerer, Harald H; von Kodolitsch, Yskert Y
Publication Date: 2020-01-11

Variant appearance in text: NOTCH1: V2285I
PubMed Link: 31940858
Variant Present in the following documents:
  • Main text
  • jcm-09-00204.pdf
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: NOTCH1: 6853G>A; V2285I; rs61751489
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: NOTCH1: 6853G>A; V2285I
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Nature
Flannick, Jason J; Mercader, Josep M JM; Fuchsberger, Christian C; Udler, Miriam S MS; Mahajan, Anubha A; Wessel, Jennifer J; Teslovich, Tanya M TM; Caulkins, Lizz L; Koesterer, Ryan R; Barajas-Olmos, Francisco F; Blackwell, Thomas W TW; Boerwinkle, Eric E; Brody, Jennifer A JA; Centeno-Cruz, Federico F; Chen, Ling L; Chen, Siying S; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; Cortes, Maria M; DeFronzo, Ralph A RA; Dolan, Lawrence L; Drews, Kimberly L KL; Elliott, Amanda A; Floyd, James S JS; Gabriel, Stacey S; Garay-Sevilla, Maria Eugenia ME; García-Ortiz, Humberto H; Gross, Myron M; Han, Sohee S; Heard-Costa, Nancy L NL; Jackson, Anne U AU; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kelsey, Megan M; Kim, Bong-Jo BJ; Koistinen, Heikki A HA; Kuusisto, Johanna J; Leader, Joseph B JB; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Jianjun J; Lyssenko, Valeriya V; Manning, Alisa K AK; Marcketta, Anthony A; Malacara-Hernandez, Juan Manuel JM; Martínez-Hernández, Angélica A; Matsuo, Karen K; Mayer-Davis, Elizabeth E; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morrison, Alanna C AC; Ndungu, Anne A; Ng, Maggie C Y MCY; O'Dushlaine, Colm C; Payne, Anthony J AJ; Pihoker, Catherine C; , ; Post, Wendy S WS; Preuss, Michael M; Psaty, Bruce M BM; Vasan, Ramachandran S RS; Rayner, N William NW; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Robertson, Neil R NR; Santoro, Nicola N; Schurmann, Claudia C; So, Wing Yee WY; Soberón, Xavier X; Stringham, Heather M HM; Strom, Tim M TM; Tam, Claudia H T CHT; Thameem, Farook F; Tomlinson, Brian B; Torres, Jason M JM; Tracy, Russell P RP; van Dam, Rob M RM; Vujkovic, Marijana M; Wang, Shuai S; Welch, Ryan P RP; Witte, Daniel R DR; Wong, Tien-Yin TY; Atzmon, Gil G; Barzilai, Nir N; Blangero, John J; Bonnycastle, Lori L LL; Bowden, Donald W DW; Chambers, John C JC; Chan, Edmund E; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Collins, Francis S FS; de Vries, Paul S PS; Duggirala, Ravindranath R; Glaser, Benjamin B; Gonzalez, Clicerio C; Gonzalez, Ma Elena ME; Groop, Leif L; Kooner, Jaspal Singh JS; Kwak, Soo Heon SH; Laakso, Markku M; Lehman, Donna M DM; Nilsson, Peter P; Spector, Timothy D TD; Tai, E Shyong ES; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Wilson, James G JG; Aguilar-Salinas, Carlos A CA; Bottinger, Erwin E; Burke, Brian B; Carey, David J DJ; Chan, Juliana C N JCN; Dupuis, Josée J; Frossard, Philippe P; Heckbert, Susan R SR; Hwang, Mi Yeong MY; Kim, Young Jin YJ; Kirchner, H Lester HL; Lee, Jong-Young JY; Lee, Juyoung J; Loos, Ruth J F RJF; Ma, Ronald C W RCW; Morris, Andrew D AD; O'Donnell, Christopher J CJ; Palmer, Colin N A CNA; Pankow, James J; Park, Kyong Soo KS; Rasheed, Asif A; Saleheen, Danish D; Sim, Xueling X; Small, Kerrin S KS; Teo, Yik Ying YY; Haiman, Christopher C; Hanis, Craig L CL; Henderson, Brian E BE; Orozco, Lorena L; Tusié-Luna, Teresa T; Dewey, Frederick E FE; Baras, Aris A; Gieger, Christian C; Meitinger, Thomas T; Strauch, Konstantin K; Lange, Leslie L; Grarup, Niels N; Hansen, Torben T; Pedersen, Oluf O; Zeitler, Philip P; Dabelea, Dana D; Abecasis, Goncalo G; Bell, Graeme I GI; Cox, Nancy J NJ; Seielstad, Mark M; Sladek, Rob R; Meigs, James B JB; Rich, Steve S SS; Rotter, Jerome I JI; , ; , ; , ; , ; , ; , ; , ; , ; , ; Altshuler, David D; Burtt, Noël P NP; Scott, Laura J LJ; Morris, Andrew P AP; Florez, Jose C JC; McCarthy, Mark I MI; Boehnke, Michael M
Publication Date: 2019-06

Variant appearance in text: rs61751489
PubMed Link: 31118516
Variant Present in the following documents:
  • 41586_2019_1231_MOESM1_ESM.pdf
View BVdb publication page



Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine
Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V
Publication Date: 2019-03

Variant appearance in text: NOTCH1: V2285I; rs61751489
PubMed Link: 30737087
Variant Present in the following documents:
  • mmc1.xlsx, sheet 9
View BVdb publication page



Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.

Genetic Epidemiology
Helle, Emmi E; Córdova-Palomera, Aldo A; Ojala, Tiina T; Saha, Priyanka P; Potiny, Praneetha P; Gustafsson, Stefan S; Ingelsson, Erik E; Bamshad, Michael M; Nickerson, Deborah D; Chong, Jessica X JX; , ; Ashley, Euan E; Priest, James R JR
Publication Date: 2019-03

Variant appearance in text: NOTCH1: 6853G>A; Val2285Ile; rs61751489
PubMed Link: 30511478
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and transcriptional evolution alters cancer cell line drug response.

Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08

Variant appearance in text: NOTCH1: 6853G>A; V2285I; rs61751489
PubMed Link: 30089904
Variant Present in the following documents:
  • NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: NOTCH1: 6853G>A; Val2285Ile; rs61751489
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 3
  • bty518_supplementary_data_s6.xlsx, sheet 3
View BVdb publication page



Clinical impact of miR-223 expression in pediatric T-Cell lymphoblastic lymphoma.

Oncotarget
Pomari, Elena E; Lovisa, Federica F; Carraro, Elisa E; Primerano, Simona S; D'Amore, Emanuele S G ESG; Bonvini, Paolo P; Nigro, Luca Lo LL; Vito, Rita De R; Vinti, Luciana L; Farruggia, Piero P; Pillon, Marta M; Basso, Giuseppe G; Basso, Katia K; Mussolin, Lara L
Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: 6853G>A; V2285I
PubMed Link: 29296210
Variant Present in the following documents:
View BVdb publication page



Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions.

Nature Communications
Dalin, Martin G MG; Katabi, Nora N; Persson, Marta M; Lee, Ken-Wing KW; Makarov, Vladimir V; Desrichard, Alexis A; Walsh, Logan A LA; West, Lyndsay L; Nadeem, Zaineb Z; Ramaswami, Deepa D; Havel, Jonathan J JJ; Kuo, Fengshen F; Chadalavada, Kalyani K; Nanjangud, Gouri J GJ; Ganly, Ian I; Riaz, Nadeem N; Ho, Alan L AL; Antonescu, Cristina R CR; Ghossein, Ronald R; Stenman, Göran G; Chan, Timothy A TA; Morris, Luc G T LGT
Publication Date: 2017-10-30

Variant appearance in text: NOTCH1: 6853G>A; Val2285Ile
PubMed Link: 29084941
Variant Present in the following documents:
  • 41467_2017_1178_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: NOTCH1: 6853G>A; Val2285Ile; rs61751489
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Plos Genetics
Priest, James R JR; Osoegawa, Kazutoyo K; Mohammed, Nebil N; Nanda, Vivek V; Kundu, Ramendra R; Schultz, Kathleen K; Lammer, Edward J EJ; Girirajan, Santhosh S; Scheetz, Todd T; Waggott, Daryl D; Haddad, Francois F; Reddy, Sushma S; Bernstein, Daniel D; Burns, Trudy T; Steimle, Jeffrey D JD; Yang, Xinan H XH; Moskowitz, Ivan P IP; Hurles, Matthew M; Lifton, Richard P RP; Nickerson, Debbie D; Bamshad, Michael M; Eichler, Evan E EE; Mital, Seema S; Sheffield, Val V; Quertermous, Thomas T; Gelb, Bruce D BD; Portman, Michael M; Ashley, Euan A EA
Publication Date: 2016-04

Variant appearance in text: NOTCH1: V2285I
PubMed Link: 27058611
Variant Present in the following documents:
  • Main text
  • pgen.1005963.pdf
View BVdb publication page



Comparison of the cytotoxicity of cladribine and clofarabine when combined with fludarabine and busulfan in AML cells: Enhancement of cytotoxicity with epigenetic modulators.

Experimental Hematology
Valdez, Benigno C BC; Li, Yang Y; Murray, David D; Ji, Jie J; Liu, Yan Y; Popat, Uday U; Champlin, Richard E RE; Andersson, Borje S BS
Publication Date: 2015-06

Variant appearance in text: NOTCH1: 6853G>A; V2285I
PubMed Link: 25704054
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: NOTCH1: 6853G>A; V2285I; rs61751489
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
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: NOTCH1: V2285I; rs61751489
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: NOTCH1: V2285I; rs61751489
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: NOTCH1: V2285I; rs61751489
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 3
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr
Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA
Publication Date: 2013-12-10

Variant appearance in text: rs61751489
PubMed Link: 24326041
Variant Present in the following documents:
  • bcr3584-S1.pdf
View BVdb publication page