Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.H604Y
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NTRK1

NM_002529.4:p.H604Y

Associated Papers

Effects of Neurotrophic Tyrosine Kinase Receptor Type I NTRK1 Polymorphism on Epidural Analgesia with Hydromorphone during Labor.

Lu K et al.

The Tohoku Journal of Experimental Medicine, 2025

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

A recurrent NTRK1 tyrosine kinase domain mutation pair is characteristic in a subset of dedifferentiated liposarcomas.

Lippai Z et al.

European Journal of Cancer (oxford, England : 1990), 2024

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel

Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).

Rieneck K et al.

Plos One, 2023

37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › CCP_ALL_source

Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.

Lee NY et al.

Human Genomics, 2022

Human papillomavirus integration perspective in small cell cervical carcinoma.

Wang X et al.

Nature Communications, 2022

36216793 (PubMed )
Supplement: 41467_2022_33359_MOESM1_ESM.pdf

Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.

López-Cortés A et al.

Bmc Medical Genomics, 2020

32807182 (PubMed )
Supplement: 12920_2020_764_MOESM4_ESM.xlsx › Table_S1

Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.

Niwinska A et al.

Diagnostics (basel, Switzerland), 2020

32731384 (PubMed )
Supplement: diagnostics-10-00523-s001.zip › diagnostics-851816-supplementary.xlsx › Supplementary_Table_S2

Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.

Hartin SN et al.

Molecular Genetics & Genomic Medicine, 2019

Associations between single-nucleotide polymorphisms in the NTRK1 gene and basal pain sensitivity in young Han Chinese women.

Li N et al.

Neuroscience Letters, 2018

Research progress of neuroblastoma related gene variations.

Cao Y et al.

Oncotarget, 2017

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Fang H et al.

Bmc Medical Genomics, 2017

A comparative assessment of clinical whole exome and transcriptome profiling across sequencing centers: implications for precision cancer medicine.

Van Allen EM et al.

Oncotarget, 2016

27167109 (PubMed )
Supplement: oncotarget-07-52888-s004.xlsx › SUMMARY-GERM_LINE

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

Jóri B et al.

Oncotarget, 2015

26517685 (PubMed )
Supplement: oncotarget-06-41108-s005.xlsx › Suppl._Table_4_-_primers

Characterization of DNA variants in the human kinome in breast cancer.

Agarwal D et al.

Scientific Reports, 2015

26420498 (PubMed )
Supplement: srep14736-s3.xls › HFI_Unique

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Wang J et al.

Genome Medicine, 2015

26338694 (PubMed )
Supplement: 13073_2015_207_MOESM1_ESM.xlsx › S5

First evidence of a polygenic susceptibility to pain in a pediatric cohort.

Mamie C et al.

Anesthesia and Analgesia, 2013

Gender-stratified gene and gene-treatment interactions in smoking cessation.

Lee W et al.

The Pharmacogenomics Journal, 2012

21808284 (PubMed )
Supplement: NIHMS305090-supplement-3.pdf

Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.

Indo Y

Clinical Genetics, 2012

Dual association of a TRKA polymorphism with schizophrenia.

Van Schijndel JE et al.

Psychiatric Genetics, 2011

c.1810C>T polymorphism of NTRK1 gene is associated with reduced survival in neuroblastoma patients.

Lipska BS et al.

Bmc Cancer, 2009

Identification and analysis of deleterious human SNPs.

Yue P et al.

Journal of Molecular Biology, 2006

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.

Verpoorten N et al.

Neuromuscular Disorders : Nmd, 2006

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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."