Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.L93P
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NTRK1

NM_002529.4:p.L93P

Associated Papers

Uncovering the missing mutations in pain.

Pham QTT et al.

Pain, 2024

Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis.

Li L et al.

Frontiers in Pediatrics, 2021

33748046 (PubMed )
Supplement: Table_2.XLSX › Sheet2

Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.

Sami N et al.

Molecular Neurobiology, 2017

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

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

Congenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis.

Shalimar A et al.

Journal of Orthopaedic Surgery (hong Kong), 2007

Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases.

Matsushima N et al.

Cellular and Molecular Life Sciences : Cmls, 2005

RET and NTRK1 proto-oncogenes in human diseases.

Alberti L et al.

Journal of Cellular Physiology, 2003

Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.

Indo Y

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2002

Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations.

Miranda C et al.

The Journal of Biological Chemistry, 2002

Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.

Indo Y

Human Mutation, 2001

Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.

Mardy S et al.

Human Molecular Genetics, 2001

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.

Miura Y et al.

Human Genetics, 2000

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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."