ALK c.3497T>G ;(p.M1166R)

Variant ID: 2-29445228-A-C

NM_004304.4(ALK):c.3497T>G;(p.M1166R)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


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: M1166R
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: M1166R
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Exceptional response to the ALK and ROS1 inhibitor lorlatinib and subsequent mechanism of resistance in relapsed ALK F1174L-mutated neuroblastoma.

Cold Spring Harbor Molecular Case Studies
Liu, Tingting T; Merguerian, Matthew D MD; Rowe, Steven P SP; Pratilas, Christine A CA; Chen, Allen R AR; Ladle, Brian H BH
Publication Date: 2021-08

Variant appearance in text: ALK: M1166R
PubMed Link: 34210658
Variant Present in the following documents:
  • Main text
  • MCS006064Liu.pdf
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: M1166R
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: M1166R
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Landscape of drug-resistance mutations in kinase regulatory hotspots.

Briefings In Bioinformatics
Kim, Pora P; Li, Hanyang H; Wang, Junmei J; Zhao, Zhongming Z
Publication Date: 2021-05-20

Variant appearance in text: ALK: M1166R
PubMed Link: 32510566
Variant Present in the following documents:
  • Main text
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: M1166R
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: M1166R
PubMed Link: 30982079
Variant Present in the following documents:
  • Main text
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: M1166R
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: M1166R
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: M1166R
PubMed Link: 30006516
Variant Present in the following documents:
  • 41598_2018_28752_MOESM3_ESM.xlsx, sheet 1
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: M1166R
PubMed Link: 28050598
Variant Present in the following documents:
  • Main text
  • HollaMCS001115.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: ALK: M1166R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



The ALK inhibitor PF-06463922 is effective as a single agent in neuroblastoma driven by expression of ALK and MYCN.

Disease Models & Mechanisms
Guan, J J; Tucker, E R ER; Wan, H H; Chand, D D; Danielson, L S LS; Ruuth, K K; El Wakil, A A; Witek, B B; Jamin, Y Y; Umapathy, G G; Robinson, S P SP; Johnson, T W TW; Smeal, T T; Martinsson, T T; Chesler, L L; Palmer, R H RH; Hallberg, B B
Publication Date: 2016-09-01

Variant appearance in text: ALK: M1166R
PubMed Link: 27483357
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: M1166R
PubMed Link: 26503946
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phase II Pilot Study of Vemurafenib in Patients With Metastatic BRAF-Mutated Colorectal Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Kopetz, Scott S; Desai, Jayesh J; Chan, Emily E; Hecht, Joel Randolph JR; O'Dwyer, Peter J PJ; Maru, Dipen D; Morris, Van V; Janku, Filip F; Dasari, Arvind A; Chung, Woonbook W; Issa, Jean-Pierre J JP; Gibbs, Peter P; James, Brian B; Powis, Garth G; Nolop, Keith B KB; Bhattacharya, Suman S; Saltz, Leonard L
Publication Date: 2015-12-01

Variant appearance in text: ALK: M1166R
PubMed Link: 26460303
Variant Present in the following documents:
  • supp_33.34.4032_DS_2015.632497.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: M1166R
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: M1166R
PubMed Link: 25517749
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrating in silico prediction methods, molecular docking, and molecular dynamics simulation to predict the impact of ALK missense mutations in structural perspective.

Biomed Research International
Doss, C George Priya CG; Chakraborty, Chiranjib C; Chen, Luonan L; Zhu, Hailong H
Publication Date: 2014

Variant appearance in text: ALK: M1166R
PubMed Link: 25054154
Variant Present in the following documents:
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: M1166R
PubMed Link: 23104988
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autophagy limits the cytotoxic effects of the AKT inhibitor AZ7328 in human bladder cancer cells.

Cancer Biology & Therapy
Dickstein, Rian J RJ; Nitti, Giovanni G; Dinney, Colin P CP; Davies, Barry R BR; Kamat, Ashish M AM; McConkey, David J DJ
Publication Date: 2012-11

Variant appearance in text: ALK: M1166R
PubMed Link: 22895070
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: M1166R
PubMed Link: 21945349
Variant Present in the following documents:
  • Main text
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: ALK: M1166R
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
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: M1166R
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: M1166R
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: 3497T>G; M1166R
PubMed Link: 18724359
Variant Present in the following documents:
  • Main text
View BVdb publication page