Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.R649W
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NTRK1

NM_002529.4:p.R649W

Associated Papers

Clinical Utility of Circulating Tumor DNA for Detecting Lung Cancer Mutations by Targeted Next-Generation Sequencing With Insufficient Tumor Samples.

Sun Y et al.

Journal of Clinical Laboratory Analysis, 2024

Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.

Li S et al.

Pain, 2024

Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV.

Pacifico P et al.

Human Molecular Genetics, 2023

Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Shen F et al.

Frontiers in Oncology, 2022

35814426 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S2

Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.

Liu Z et al.

The Journal of International Medical Research, 2018

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).

Shaikh SS et al.

Human Mutation, 2017

Protein-structure-guided discovery of functional mutations across 19 cancer types.

Niu B et al.

Nature Genetics, 2016

Mismatch repair deficiency associated with complete remission to combination programmed cell death ligand immune therapy in a patient with sporadic urothelial carcinoma: immunotheranostic considerations.

Castro MP et al.

Journal for Immunotherapy of Cancer, 2015

Functional characterization of NTRK1 mutations identified in melanoma.

Miranda C et al.

Genes, Chromosomes & Cancer, 2014

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

Indo Y

Clinical Genetics, 2012

Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.

Li M et al.

Genetics and Molecular Research : Gmr, 2012

Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.

Geng X et al.

Molecular Pain, 0

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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."