ALK c.3749T>C ;(p.I1250T)

Variant ID: 2-29432739-A-G

NM_004304.4(ALK):c.3749T>C;(p.I1250T)

This variant was identified in 37 publications

View GRCh38 version.




Publications:


Germline pathogenic variants in 786 neuroblastoma patients.

Medrxiv : The Preprint Server For Health Sciences
Kim, Jung J; Vaksman, Zalman Z; Egolf, Laura E LE; Kaufman, Rebecca R; Evans, J Perry JP; Conkrite, Karina L KL; Danesh, Arnavaz A; Lopez, Gonzalo G; Randall, Michael P MP; Dent, Maiah H MH; Farra, Lance M LM; Menghani, Neil N; Dymek, Malwina M; Desai, Heena H; Hausler, Ryan R; , ; , ; , ; Auvil, Jaime Guidry JG; Gerhard, Daniela S DS; Hakonarson, Hakon H; Maxwell, Kara N KN; Cole, Kristina A KA; Pugh, Trevor J TJ; Bosse, Kristopher R KR; Khan, Javed J; Wei, Jun S JS; Maris, John M JM; Stewart, Douglas R DR; Diskin, Sharon J SJ
Publication Date: 2023-01-25

Variant appearance in text: ALK: 3749T>C; Ile1250Thr; rs113994092
PubMed Link: 36747619
Variant Present in the following documents:
  • Main text
  • media-2.xlsx, sheet 3
  • nihpp-2023.01.23.23284864v1.pdf
  • media-1.pdf
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Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Ebiomedicine
Bonfiglio, Ferdinando F; Lasorsa, Vito Alessandro VA; Cantalupo, Sueva S; D'Alterio, Giuseppe G; Aievola, Vincenzo V; Boccia, Angelo A; Ardito, Martina M; Furini, Simone S; Renieri, Alessandra A; Morini, Martina M; Stainczyk, Sabine S; Westermann, Frank F; Paolella, Giovanni G; Eva, Alessandra A; Iolascon, Achille A; Capasso, Mario M
Publication Date: 2022-12-06

Variant appearance in text: ALK: 3749T>C; Ile1250Thr
PubMed Link: 36493725
Variant Present in the following documents:
  • mmc1.xlsx, sheet 8
View BVdb publication page



Targeting the ALK-CDK9-Tyr19 kinase cascade sensitizes ovarian and breast tumors to PARP inhibition via destabilization of the P-TEFb complex.

Nature Cancer
Chu, Yu-Yi YY; Chen, Mei-Kuang MK; Wei, Yongkun Y; Lee, Heng-Huan HH; Xia, Weiya W; Wang, Ying-Nai YN; Yam, Clinton C; Hsu, Jennifer L JL; Wang, Hung-Ling HL; Chang, Wei-Chao WC; Yamaguchi, Hirohito H; Jiang, Zhou Z; Liu, Chunxiao C; Li, Ching-Fei CF; Nie, Lei L; Chan, Li-Chuan LC; Gao, Yuan Y; Wang, Shao-Chun SC; Liu, Jinsong J; Westin, Shannon N SN; Lee, Sanghoon S; Sood, Anil K AK; Yang, Liuqing L; Hortobagyi, Gabriel N GN; Yu, Dihua D; Hung, Mien-Chie MC
Publication Date: 2022-10

Variant appearance in text: ALK: Ile1250Thr
PubMed Link: 36253486
Variant Present in the following documents:
  • Main text
  • 43018_2022_Article_438.pdf
View BVdb publication page



Defining Pathological Activities of ALK in Neuroblastoma, a Neural Crest-Derived Cancer.

International Journal Of Molecular Sciences
Wulf, Anna M AM; Moreno, Marcela M MM; Paka, Chloé C; Rampasekova, Alexandra A; Liu, Karen J KJ
Publication Date: 2021-10-29

Variant appearance in text: ALK: I1250T
PubMed Link: 34769149
Variant Present in the following documents:
  • Main text
  • ijms-22-11718.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: ALK: I1250T
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Computational studies of anaplastic lymphoma kinase mutations reveal common mechanisms of oncogenic activation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Patil, Keshav K; Jordan, Earl Joseph EJ; Park, Jin H JH; Suresh, Krishna K; Smith, Courtney M CM; Lemmon, Abigail A AA; Mossé, Yaël P YP; Lemmon, Mark A MA; Radhakrishnan, Ravi R
Publication Date: 2021-03-09

Variant appearance in text: ALK: I1250T
PubMed Link: 33674381
Variant Present in the following documents:
  • Main text
  • pnas.202019132.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ALK: I1250T
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: ALK: 3749T>C; Ile1250Thr
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: ALK: I1250T
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Computational algorithms for in silico profiling of activating mutations in cancer.

Cellular And Molecular Life Sciences : Cmls
Jordan, E Joseph EJ; Patil, Keshav K; Suresh, Krishna K; Park, Jin H JH; Mosse, Yael P YP; Lemmon, Mark A MA; Radhakrishnan, Ravi R
Publication Date: 2019-07

Variant appearance in text: ALK: I1250T
PubMed Link: 30982079
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting anaplastic lymphoma kinase in neuroblastoma.

Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica
Umapathy, Ganesh G; Mendoza-Garcia, Patricia P; Hallberg, Bengt B; Palmer, Ruth H RH
Publication Date: 2019-05

Variant appearance in text: ALK: I1250T
PubMed Link: 30803032
Variant Present in the following documents:
  • APM-127-288.pdf
View BVdb publication page



Anaplastic Lymphoma Kinase (ALK) Receptor Tyrosine Kinase: A Catalytic Receptor with Many Faces.

International Journal Of Molecular Sciences
Huang, Hao H
Publication Date: 2018-11-02

Variant appearance in text: ALK: I1250T
PubMed Link: 30400214
Variant Present in the following documents:
  • Main text
  • ijms-19-03448.pdf
View BVdb publication page



Reviving B-Factors: Activating ALK Mutations Increase Protein Dynamics of the Unphosphorylated Kinase.

Acs Medicinal Chemistry Letters
Johnson, Ted W TW; Bolanos, Ben B; Brooun, Alexei A; Gallego, Rebecca A RA; Gehlhaar, Dan D; Jalaie, Mehran M; McTigue, Michele M; Timofeevski, Sergei S
Publication Date: 2018-09-13

Variant appearance in text: ALK: I1250T
PubMed Link: 30258533
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure and energy based quantitative missense variant effect analysis provides insights into drug resistance mechanisms of anaplastic lymphoma kinase mutations.

Scientific Reports
Li, Jianzong J; Huang, Yue Y; Wu, Miaomiao M; Wu, Chuanfang C; Li, Xin X; Bao, Jinku J
Publication Date: 2018-07-13

Variant appearance in text: ALK: I1250T
PubMed Link: 30006516
Variant Present in the following documents:
  • 41598_2018_28752_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



ALK in Neuroblastoma: Biological and Therapeutic Implications.

Cancers
Trigg, Ricky M RM; Turner, Suzanne D SD
Publication Date: 2018-04-10

Variant appearance in text: ALK: i1250t
PubMed Link: 29642598
Variant Present in the following documents:
  • Main text
  • cancers-10-00113.pdf
View BVdb publication page



Genetic susceptibility to neuroblastoma: current knowledge and future directions.

Cell And Tissue Research
Ritenour, Laura E LE; Randall, Michael P MP; Bosse, Kristopher R KR; Diskin, Sharon J SJ
Publication Date: 2018-05

Variant appearance in text: ALK: I1250T
PubMed Link: 29589100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tumor Resistance against ALK Targeted Therapy-Where It Comes From and Where It Goes.

Cancers
Sharma, Geeta Geeta GG; Mota, Ines I; Mologni, Luca L; Patrucco, Enrico E; Gambacorti-Passerini, Carlo C; Chiarle, Roberto R
Publication Date: 2018-02-28

Variant appearance in text: ALK: I1250T
PubMed Link: 29495603
Variant Present in the following documents:
  • Main text
  • cancers-10-00062.pdf
View BVdb publication page



Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Oncotarget
Gudernova, Iva I; Balek, Lukas L; Varecha, Miroslav M; Kucerova, Jana Fialova JF; Kunova Bosakova, Michaela M; Fafilek, Bohumil B; Palusova, Veronika V; Uldrijan, Stjepan S; Trantirek, Lukas L; Krejci, Pavel P
Publication Date: 2017-12-12

Variant appearance in text: ALK: I1250T
PubMed Link: 29312610
Variant Present in the following documents:
  • Main text
  • oncotarget-08-109319.pdf
View BVdb publication page



The role of anaplastic lymphoma kinase in pediatric cancers.

Cancer Science
Takita, Junko J
Publication Date: 2017-10

Variant appearance in text: ALK: I1250T
PubMed Link: 28756644
Variant Present in the following documents:
  • Main text
  • CAS-108-1913.pdf
View BVdb publication page



ALK: a tyrosine kinase target for cancer therapy.

Cold Spring Harbor Molecular Case Studies
Holla, Vijaykumar R VR; Elamin, Yasir Y YY; Bailey, Ann Marie AM; Johnson, Amber M AM; Litzenburger, Beate C BC; Khotskaya, Yekaterina B YB; Sanchez, Nora S NS; Zeng, Jia J; Shufean, Md Abu MA; Shaw, Kenna R KR; Mendelsohn, John J; Mills, Gordon B GB; Meric-Bernstam, Funda F; Simon, George R GR
Publication Date: 2017-01

Variant appearance in text: ALK: I1250T
PubMed Link: 28050598
Variant Present in the following documents:
  • Main text
View BVdb publication page



Anaplastic lymphoma kinase L1198F and G1201E mutations identified in anaplastic thyroid cancer patients are not ligand-independent.

Oncotarget
Guan, Jikui J; Wolfstetter, Georg G; Siaw, Joachim J; Chand, Damini D; Hugosson, Fredrik F; Palmer, Ruth H RH; Hallberg, Bengt B
Publication Date: 2017-02-14

Variant appearance in text: ALK: I1250T
PubMed Link: 28030793
Variant Present in the following documents:
  • Main text
  • oncotarget-08-11566.pdf
View BVdb publication page



A causal link from ALK to hexokinase II overexpression and hyperactive glycolysis in EML4-ALK-positive lung cancer.

Oncogene
Ma, Y Y; Yu, C C; Mohamed, E M EM; Shao, H H; Wang, L L; Sundaresan, G G; Zweit, J J; Idowu, M M; Fang, X X
Publication Date: 2016-11-24

Variant appearance in text: ALK: I1250T
PubMed Link: 27132509
Variant Present in the following documents:
  • Main text
  • nihms-772960.pdf
View BVdb publication page



Anaplastic lymphoma kinase: Role in cancer and therapy perspective.

Cancer Biology & Therapy
Zhao, Zhihong Z; Verma, Vivek V; Zhang, Mutian M
Publication Date: 2015

Variant appearance in text: ALK: I1250T
PubMed Link: 26529396
Variant Present in the following documents:
  • Main text
View BVdb publication page



Anaplastic Lymphoma Kinase as a Cancer Target in Pediatric Malignancies.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Mossé, Yael P YP
Publication Date: 2016-02-01

Variant appearance in text: ALK: I1250T
PubMed Link: 26503946
Variant Present in the following documents:
  • Main text
View BVdb publication page



FAM150A and FAM150B are activating ligands for anaplastic lymphoma kinase.

Elife
Guan, Jikui J; Umapathy, Ganesh G; Yamazaki, Yasuo Y; Wolfstetter, Georg G; Mendoza, Patricia P; Pfeifer, Kathrin K; Mohammed, Ateequrrahman A; Hugosson, Fredrik F; Zhang, Hongbing H; Hsu, Amy W AW; Halenbeck, Robert R; Hallberg, Bengt B; Palmer, Ruth H RH
Publication Date: 2015-09-29

Variant appearance in text: ALK: I1250T
PubMed Link: 26418745
Variant Present in the following documents:
  • elife-09811.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ALK: I1250T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



ALK mutations confer differential oncogenic activation and sensitivity to ALK inhibition therapy in neuroblastoma.

Cancer Cell
Bresler, Scott C SC; Weiser, Daniel A DA; Huwe, Peter J PJ; Park, Jin H JH; Krytska, Kateryna K; Ryles, Hannah H; Laudenslager, Marci M; Rappaport, Eric F EF; Wood, Andrew C AC; McGrady, Patrick W PW; Hogarty, Michael D MD; London, Wendy B WB; Radhakrishnan, Ravi R; Lemmon, Mark A MA; Mossé, Yaël P YP
Publication Date: 2014-11-10

Variant appearance in text: ALK: I1250T
PubMed Link: 25517749
Variant Present in the following documents:
  • Main text
View BVdb publication page



Wild-type ALK and activating ALK-R1275Q and ALK-F1174L mutations upregulate Myc and initiate tumor formation in murine neural crest progenitor cells.

Oncotarget
Montavon, Gisèle G; Jauquier, Nicolas N; Coulon, Aurélie A; Peuchmaur, Michel M; Flahaut, Marjorie M; Bourloud, Katia Balmas KB; Yan, Pu P; Delattre, Olivier O; Sommer, Lukas L; Joseph, Jean-Marc JM; Janoueix-Lerosey, Isabelle I; Gross, Nicole N; Mühlethaler-Mottet, Annick A
Publication Date: 2014-06-30

Variant appearance in text: ALK: I1250T
PubMed Link: 24947326
Variant Present in the following documents:
  • oncotarget-05-4452.pdf
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: ALK: Ile1250Thr
PubMed Link: 23334666
Variant Present in the following documents:
  • Main text
  • NIHMS474900-supplement-8.xlsx, sheet 2
View BVdb publication page



Cell culture and Drosophila model systems define three classes of anaplastic lymphoma kinase mutations in neuroblastoma.

Disease Models & Mechanisms
Chand, Damini D; Yamazaki, Yasuo Y; Ruuth, Kristina K; Schönherr, Christina C; Martinsson, Tommy T; Kogner, Per P; Attiyeh, Edward F EF; Maris, John J; Morozova, Olena O; Marra, Marco A MA; Ohira, Miki M; Nakagawara, Akira A; Sandström, Per-Erik PE; Palmer, Ruth H RH; Hallberg, Bengt B
Publication Date: 2013-03

Variant appearance in text: ALK: I1250T
PubMed Link: 23104988
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting ALK in neuroblastoma--preclinical and clinical advancements.

Nature Reviews. Clinical Oncology
Carpenter, Erica L EL; Mossé, Yael P YP
Publication Date: 2012-05-15

Variant appearance in text: ALK: I1250T
PubMed Link: 22585002
Variant Present in the following documents:
  • Main text
View BVdb publication page



Emerging importance of ALK in neuroblastoma.

Seminars In Cancer Biology
Azarova, Anna M AM; Gautam, Gargi G; George, Rani E RE
Publication Date: 2011-10

Variant appearance in text: ALK: I1250T
PubMed Link: 21945349
Variant Present in the following documents:
  • Main text
View BVdb publication page



The neuroblastoma ALK(I1250T) mutation is a kinase-dead RTK in vitro and in vivo.

Translational Oncology
Schönherr, Christina C; Ruuth, Kristina K; Eriksson, Therese T; Yamazaki, Yasuo Y; Ottmann, Christian C; Combaret, Valerie V; Vigny, Marc M; Kamaraj, Sattu S; Palmer, Ruth H RH; Hallberg, Bengt B
Publication Date: 2011-08

Variant appearance in text: ALK: I1250T
PubMed Link: 21804922
Variant Present in the following documents:
  • Main text
View BVdb publication page



Anaplastic lymphoma kinase: signalling in development and disease.

The Biochemical Journal
Palmer, Ruth H RH; Vernersson, Emma E; Grabbe, Caroline C; Hallberg, Bengt B
Publication Date: 2009-05-27

Variant appearance in text: ALK: I1250T
PubMed Link: 19459784
Variant Present in the following documents:
  • Main text
  • bj4200345.pdf
View BVdb publication page



Anaplastic lymphoma kinase: role in cancer pathogenesis and small-molecule inhibitor development for therapy.

Expert Review Of Anticancer Therapy
Webb, Thomas R TR; Slavish, Jake J; George, Rani E RE; Look, A Thomas AT; Xue, Liquan L; Jiang, Qin Q; Cui, Xiaoli X; Rentrop, Walter B WB; Morris, Stephan W SW
Publication Date: 2009-03

Variant appearance in text: ALK: I1250T
PubMed Link: 19275511
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of ALK as a major familial neuroblastoma predisposition gene.

Nature
Mossé, Yaël P YP; Laudenslager, Marci M; Longo, Luca L; Cole, Kristina A KA; Wood, Andrew A; Attiyeh, Edward F EF; Laquaglia, Michael J MJ; Sennett, Rachel R; Lynch, Jill E JE; Perri, Patrizia P; Laureys, Geneviève G; Speleman, Frank F; Kim, Cecilia C; Hou, Cuiping C; Hakonarson, Hakon H; Torkamani, Ali A; Schork, Nicholas J NJ; Brodeur, Garrett M GM; Tonini, Gian P GP; Rappaport, Eric E; Devoto, Marcella M; Maris, John M JM
Publication Date: 2008-10-16

Variant appearance in text: ALK: 3749T>C; I1250T
PubMed Link: 18724359
Variant Present in the following documents:
  • Main text
View BVdb publication page