Varaico: Literature-Extracted Genetic Variants

Gene:ALK
Variant:p.I1250T
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ALK

NM_004304.5:p.I1250T

Associated Papers

Novel activating SNRNP70-ALK fusion in congenital infant-type hemispheric glioma displays clinical response to lorlatinib: a case-report.

Arthur C et al.

Npj Precision Oncology, 2026

GUK1 activation is a metabolic liability in lung cancer.

Schneider JL et al.

Cell, 2025

Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.

Seo ES et al.

Nature Communications, 2024

39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list

Germline pathogenic variants in 786 neuroblastoma patients.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36747619 (PubMed )
Supplement: media-1.pdf

Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Bonfiglio F et al.

Ebiomedicine, 2023

36493725 (PubMed )
Supplement: mmc1.xlsx › Table_S8

Mapping the Phospho-dependent ALK Interactome to Identify Novel Components in ALK Signaling.

Aboualizadeh F et al.

Journal of Molecular Biology, 2021

BioID-Screening Identifies PEAK1 and SHP2 as Components of the ALK Proximitome in Neuroblastoma Cells.

Uçkun E et al.

Journal of Molecular Biology, 2021

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

Patil K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

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

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

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

Jordan EJ et al.

Cellular and Molecular Life Sciences : Cmls, 2019

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

Johnson TW et al.

Acs Medicinal Chemistry Letters, 2018

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

Gudernova I et al.

Oncotarget, 2017

The role of anaplastic lymphoma kinase in pediatric cancers.

Takita J

Cancer Science, 2017

Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.

Sami N et al.

Molecular Neurobiology, 2017

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

Guan J et al.

Oncotarget, 2017

Anaplastic Lymphoma Kinase as a Cancer Target in Pediatric Malignancies.

Mossé YP

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

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

Bresler SC et al.

Cancer Cell, 2014

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

Chand D et al.

Disease Models & Mechanisms, 2013

Activating ALK mutations found in neuroblastoma are inhibited by Crizotinib and NVP-TAE684.

Schönherr C et al.

The Biochemical Journal, 2011

Oncogenic anaplastic lymphoma kinase (ALK) mutation in neuroblastomas and other pediatric tumors.

Kwon MJ et al.

Pathology, Research and Practice, 2011

Emerging importance of ALK in neuroblastoma.

Azarova AM et al.

Seminars in Cancer Biology, 2011

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

Schönherr C et al.

Translational Oncology, 2011

Crystal structure of the ALK (anaplastic lymphoma kinase) catalytic domain.

Lee CC et al.

The Biochemical Journal, 2010

Crystal structures of anaplastic lymphoma kinase in complex with ATP competitive inhibitors.

Bossi RT et al.

Biochemistry, 2010

Genetics and genomics of neuroblastoma.

Capasso M et al.

Cancer Treatment and Research, 2010

Anaplastic lymphoma kinase: signalling in development and disease.

Palmer RH et al.

The Biochemical Journal, 2009

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

Webb TR et al.

Expert Review of Anticancer Therapy, 2009

Identification of ALK as a major familial neuroblastoma predisposition gene.

Mossé YP et al.

Nature, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."