NOTCH2 c.6223G>A ;(p.V2075M)

Variant ID: 1-120459122-C-T

NM_024408.3(NOTCH2):c.6223G>A;(p.V2075M)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Nature Communications
Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V
Publication Date: 2022-09-07

Variant appearance in text: NOTCH2: 6223G>A; V2075M
PubMed Link: 36071033
Variant Present in the following documents:
  • 41467_2022_32828_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Outcomes of allogeneic hematopoietic cell transplantation in adults with fusions associated with Ph-like ALL.

Blood Advances
Aldoss, Ibrahim I; Yang, Dongyun D; Tomasian, Vanina V; Mokhtari, Sally S; Jackson, Ryan R; Gu, Zhaohui Z; Telatar, Milhan M; Yew, Hooi H; Al Malki, Monzr M MM; Salhotra, Amandeep A; Khaled, Samer S; Ali, Haris H; Aribi, Ahmed A; Sandhu, Karamjeet S KS; Mei, Matthew M; Arslan, Shukaib S; Koller, Paul P; Artz, Andrew A; Aoun, Patricia P; Gu, Dongqing D; Snyder, David D; Stewart, Forrest M FM; Curtin, Peter P; Stein, Anthony S AS; Pillai, Raju R; Marcucci, Guido G; Forman, Stephen J SJ; Pullarkat, Vinod V; Nakamura, Ryotaro R; Afkhami, Michelle M
Publication Date: 2022-09-13

Variant appearance in text: NOTCH2: 6223G>A; V2075M
PubMed Link: 35816633
Variant Present in the following documents:
  • advancesADV2022007597-suppl1.xlsx, sheet 1
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: NOTCH2: V2075M; rs150516342
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
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: NOTCH2: 6223G>A; V2075M; rs150516342
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Publication Date: 2019

Variant appearance in text: NOTCH2: 6223G>A; V2075M
PubMed Link: 31513681
Variant Present in the following documents:
  • pone.0222535.s006.xlsx, sheet 1
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: NOTCH2: V2075M
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 32
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.

Oncotarget
Lindqvist, C Mårten CM; Lundmark, Anders A; Nordlund, Jessica J; Freyhult, Eva E; Ekman, Diana D; Carlsson Almlöf, Jonas J; Raine, Amanda A; Övernäs, Elin E; Abrahamsson, Jonas J; Frost, Britt-Marie BM; Grandér, Dan D; Heyman, Mats M; Palle, Josefine J; Forestier, Erik E; Lönnerholm, Gudmar G; Berglund, Eva C EC; Syvänen, Ann-Christine AC
Publication Date: 2016-09-27

Variant appearance in text: NOTCH2: V2075M
PubMed Link: 27590521
Variant Present in the following documents:
  • oncotarget-07-64071-s002.xlsx, sheet 5
  • oncotarget-07-64071-s002.xlsx, sheet 4
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: NOTCH2: 6223G>A; V2075M; rs150516342
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: NOTCH2: V2075M; rs150516342
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 8
View BVdb publication page



High-resolution profiling of histone h3 lysine 36 trimethylation in metastatic renal cell carcinoma.

Oncogene
Ho, T H TH; Park, I Y IY; Zhao, H H; Tong, P P; Champion, M D MD; Yan, H H; Monzon, F A FA; Hoang, A A; Tamboli, P P; Parker, A S AS; Joseph, R W RW; Qiao, W W; Dykema, K K; Tannir, N M NM; Castle, E P EP; Nunez-Nateras, R R; Teh, B T BT; Wang, J J; Walker, C L CL; Hung, M-C MC; Jonasch, E E
Publication Date: 2016-03-24

Variant appearance in text: NOTCH2: V2075M
PubMed Link: 26073078
Variant Present in the following documents:
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: NOTCH2: V2075M
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 7
View BVdb publication page



Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget
Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S
Publication Date: 2014-11-15

Variant appearance in text: NOTCH2: 6223G>A; V2075M; rs150516342
PubMed Link: 25347344
Variant Present in the following documents:
  • oncotarget-05-10596-s002.xlsx, sheet 4
View BVdb publication page



A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology
Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R
Publication Date: 2014-09

Variant appearance in text: NOTCH2: V2075M
PubMed Link: 25188385
Variant Present in the following documents:
  • pcbi.1003825.s014.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: NOTCH2: V2075M; rs150516342
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: NOTCH2: V2075M; rs150516342
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Plos One
Pippucci, Tommaso T; Parmeggiani, Antonia A; Palombo, Flavia F; Maresca, Alessandra A; Angius, Andrea A; Crisponi, Laura L; Cucca, Francesco F; Liguori, Rocco R; Valentino, Maria Lucia ML; Seri, Marco M; Carelli, Valerio V
Publication Date: 2013

Variant appearance in text: NOTCH2: 6223G>A; V2075M; rs150516342
PubMed Link: 24358150
Variant Present in the following documents:
  • pone.0082154.s002.xls, sheet 1
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: NOTCH2: V2075M; rs150516342
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: NOTCH2: V2075M
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

Nature
Dalgliesh, Gillian L GL; Furge, Kyle K; Greenman, Chris C; Chen, Lina L; Bignell, Graham G; Butler, Adam A; Davies, Helen H; Edkins, Sarah S; Hardy, Claire C; Latimer, Calli C; Teague, Jon J; Andrews, Jenny J; Barthorpe, Syd S; Beare, Dave D; Buck, Gemma G; Campbell, Peter J PJ; Forbes, Simon S; Jia, Mingming M; Jones, David D; Knott, Henry H; Kok, Chai Yin CY; Lau, King Wai KW; Leroy, Catherine C; Lin, Meng-Lay ML; McBride, David J DJ; Maddison, Mark M; Maguire, Simon S; McLay, Kirsten K; Menzies, Andrew A; Mironenko, Tatiana T; Mulderrig, Lee L; Mudie, Laura L; O'Meara, Sarah S; Pleasance, Erin E; Rajasingham, Arjunan A; Shepherd, Rebecca R; Smith, Raffaella R; Stebbings, Lucy L; Stephens, Philip P; Tang, Gurpreet G; Tarpey, Patrick S PS; Turrell, Kelly K; Dykema, Karl J KJ; Khoo, Sok Kean SK; Petillo, David D; Wondergem, Bill B; Anema, John J; Kahnoski, Richard J RJ; Teh, Bin Tean BT; Stratton, Michael R MR; Futreal, P Andrew PA
Publication Date: 2010-01-21

Variant appearance in text: NOTCH2: 6223G>A; V2075M
PubMed Link: 20054297
Variant Present in the following documents:
  • NIHMS28099-supplement-4.xls, sheet 1
View BVdb publication page



NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

American Journal Of Human Genetics
McDaniell, Ryan R; Warthen, Daniel M DM; Sanchez-Lara, Pedro A PA; Pai, Athma A; Krantz, Ian D ID; Piccoli, David A DA; Spinner, Nancy B NB
Publication Date: 2006-07

Variant appearance in text: NOTCH2: Val2075Met
PubMed Link: 16773578
Variant Present in the following documents:
  • Main text
View BVdb publication page