Varaico: Literature-Extracted Genetic Variants

Gene:TRPA1
Variant:p.E179K
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TRPA1

NM_007332.3:p.E179K

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

In silico analysis of TRPM4 variants of unknown clinical significance.

Tarnovskaya SI et al.

Plos One, 2023

38100498 (PubMed )
Supplement: pone.0295974.s001.xlsx › Table_S1_Broad_Dataset_ST

Evaluating the association of TRPA1 gene polymorphisms with pain sensitivity: a protocol for an adaptive recall by genotype study.

Nickerson AP et al.

Bmc Medical Genomics, 2022

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

Effect of TRPM8 and TRPA1 Polymorphisms on COPD Predisposition and Lung Function in COPD Patients.

Naumov DE et al.

Journal of Personalized Medicine, 2021

TRPA1 gene variants hurting our feelings.

Naert R et al.

Pflugers Archiv : European Journal of Physiology, 2020

The Co-existence of ADHD With Autism in Saudi Children: An Analysis Using Next-Generation DNA Sequencing.

Bogari NM et al.

Frontiers in Genetics, 2020

TRPA1 polymorphisms in chronic and complete spinal cord injury patients with neuropathic pain: a pilot study.

Vidal Rodriguez S et al.

Spinal Cord Series and Cases, 2017

N-terminal tetrapeptide T/SPLH motifs contribute to multimodal activation of human TRPA1 channel.

Hynkova A et al.

Scientific Reports, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Activation of Transient Receptor Potential Ankyrin-1 by Insoluble Particulate Material and Association with Asthma.

Deering-Rice CE et al.

American Journal of Respiratory Cell and Molecular Biology, 2015

SCN9A Variants May be Implicated in Neuropathic Pain Associated With Diabetic Peripheral Neuropathy and Pain Severity.

Li QS et al.

The Clinical Journal of Pain, 2015

How the TRPA1 receptor transmits painful stimuli: Inner workings revealed by electron cryomicroscopy.

Brewster MS et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2015

Genetic variants affecting human TRPA1 or TRPM8 structure can be classified in vitro as 'well expressed', 'poorly expressed' or 'salvageable'.

Morgan K et al.

Bioscience Reports, 2015

Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.

Zhang Z et al.

Scandinavian Journal of Pain, 2014

Differential expression and functionality of TRPA1 protein genetic variants in conditions of thermal stimulation.

May D et al.

The Journal of Biological Chemistry, 2012

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