present in Gene: NTRK1
present in Chromosome: 1
Position on Chromosome: 156876496
Alleles of this Variant: G/A;C
rs121964866 in
NTRK1 gene and
HSAN Type IV
PMID 28177573 2017 Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.
PMID 28328124 2017 Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
PMID 8696348 1996 Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
PMID 10233776 1999 A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.
PMID 10982191 2000 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.
PMID 11310631 2001 A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.
PMID 27676246 2017 A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
PMID 10567924 2000 To define the defect of NTRK1 in CIPA patients, we have introduced one of the previously reported mutations (Gly571Arg) into both the NTRK1 and the TRK-T3 oncogene cDNAs.
PMID 10330344 1999 Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
PMID 10861667 2000 Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
PMID 10090906 1999 A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis.
PMID 11159935 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.
PMID 18077166 2008 Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
PMID 22302274 2012 Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.