Varaico: Literature-Extracted Genetic Variants

Gene:ALK
Variant:p.R1275L
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ALK

NM_004304.5:p.R1275L

Associated Papers

A comprehensive functional atlas of ALK kinase domain variants reveals resistance landscape to ALK inhibitors.

Oh HC et al.

Genome Biology, 2026

Plasma cfDNA analysis of alectinib resistance-related gene alterations in the J-ALEX study.

Sakaguchi H et al.

Esmo Open, 2025

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.

Orlic-Milacic M et al.

Database : the Journal of Biological Databases and Curation, 2024

38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Genomic ALK alterations in primary and relapsed neuroblastoma.

Rosswog C et al.

British Journal of Cancer, 2023

36807339 (PubMed )
Supplement: 41416_2023_2208_MOESM2_ESM.xlsx › Tabelle1

Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Körber V et al.

Nature Genetics, 2023

36973454 (PubMed )
Supplement: 41588_2023_1332_MOESM4_ESM.xlsx › Supplementary_Table_7

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.

Shukla N et al.

Nature Communications, 2022

35585047 (PubMed )
Supplement: 41467_2022_30233_MOESM7_ESM.xlsx › Supplementary_Data_4

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Neuroblastoma Risk Assessment and Treatment Stratification with Hybrid Capture-Based Panel Sequencing.

Szymansky A et al.

Journal of Personalized Medicine, 2021

34442335 (PubMed )
Supplement: jpm-11-00691-s001.zip › S11-SNVs_reference_cohort.xlsx › Tabelle1

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

Multiplexed Quantification of Four Neuroblastoma DNA Targets in a Single Droplet Digital PCR Reaction.

Peitz C et al.

The Journal of Molecular Diagnostics : Jmd, 2020

Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Brady SW et al.

Nature Communications, 2020

A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

George SL et al.

European Journal of Cancer (oxford, England : 1990), 2019

31543384 (PubMed )
Supplement: mmc3.xlsx › Sheet1

ALK mutation dynamics and clonal evolution in a neuroblastoma model exhibiting two ALK mutations.

Durand S et al.

Oncotarget, 2019

Targeting anaplastic lymphoma kinase in neuroblastoma.

Umapathy G et al.

Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica, 2019

Deletion of 11q in Neuroblastomas Drives Sensitivity to PARP Inhibition.

Sanmartín E et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

TIAM1 variants improve clinical outcome in neuroblastoma.

Sanmartín E et al.

Oncotarget, 2017

28423360 (PubMed )
Supplement: oncotarget-08-45286-s003.xlsx › Sheet1

Identification of different ALK mutations in a pair of neuroblastoma cell lines established at diagnosis and relapse.

Chen L et al.

Oncotarget, 2016

Deep Sequencing Reveals Occurrence of Subclonal ALK Mutations in Neuroblastoma at Diagnosis.

Bellini A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

Seek and Ye Shall Find: Subclonal Anaplastic Lymphoma Kinase Mutations.

George RE

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

Detection of tumor ALK status in neuroblastoma patients using peripheral blood.

Combaret V et al.

Cancer Medicine, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

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

Bresler SC et al.

Cancer Cell, 2014

Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma.

Sausen M et al.

Nature Genetics, 2013

The R1275Q neuroblastoma mutant and certain ATP-competitive inhibitors stabilize alternative activation loop conformations of anaplastic lymphoma kinase.

Epstein LF et al.

The Journal of Biological Chemistry, 2012

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

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

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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."