Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.A442G
Back to variants list

CHIT1

NM_003465.3:p.A442G

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.

Malinová V et al.

International Journal of Molecular Sciences, 2023

Chitotriosidase on treatment-naïve patients with Gaucher disease: A genotype vs phenotype study.

Sperb-Ludwig F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.

Mavrikiou G et al.

Clinical Biochemistry, 2016

Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian Populations.

Da Silva-José TD et al.

Jimd Reports, 2015

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.

Manno N et al.

Carbohydrate Polymers, 2014

Association of genetic variation in chitotriosidase with atopy in Korean children.

Kim KW et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2013

CHIT1 genetic defects in the Portuguese population.

Duarte AJ et al.

Blood Cells, Molecules & Diseases, 2013

Chitotriosidase deficiency: a mutation update in an african population.

Arndt S et al.

Jimd Reports, 2013

The chitinase and chitinase-like proteins: a review of genetic and functional studies in asthma and immune-mediated diseases.

Ober C et al.

Current Opinion in Allergy and Clinical Immunology, 2009

Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma.

Bierbaum S et al.

International Journal of Immunogenetics, 2006

Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity.

Lee P et al.

Blood Cells, Molecules & Diseases, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."