Varaico: Literature-Extracted Genetic Variants

Gene:CHIA
Variant:p.D47N
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CHIA

NM_201653.4:p.D47N

Associated Papers

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

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

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

Differences in the chitinolytic activity of mammalian chitinases on soluble and insoluble substrates.

Barad BA et al.

Protein Science : a Publication of the Protein Society, 2020

Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Miller EM et al.

Oncotarget, 2017

29254223 (PubMed )
Supplement: oncotarget-08-102033-s003.xlsx › macrogen_wes.n65_t65.varscan.sn

Genetic variants including markers from the exome chip and metabolite traits of type 2 diabetes.

Jäger S et al.

Scientific Reports, 2017

28729637 (PubMed )
Supplement: 41598_2017_6158_MOESM1_ESM.pdf

Loss and Gain of Human Acidic Mammalian Chitinase Activity by Nonsynonymous SNPs.

Okawa K et al.

Molecular Biology and Evolution, 2016

Genetic analysis of advanced glycation end products in the DHS MIND study.

Adams JN et al.

Gene, 2016

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00011-Table_S14.xlsx › Sheet1

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

Differential enzymatic activity of common haplotypic versions of the human acidic Mammalian chitinase protein.

Seibold MA et al.

The Journal of Biological Chemistry, 2009

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