Varaico: Literature-Extracted Genetic Variants

Gene:MMP14
Variant:p.D273N
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MMP14

NM_004995.4:p.D273N

Associated Papers

Molecular genetics of Dupuytren's contracture.

Aissvarya S et al.

Efort Open Reviews, 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

A common SNP risk variant MT1-MMP causative for Dupuytren's disease has a specific defect in collagenolytic activity.

Itoh Y et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2021

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Justice AE et al.

Nature Genetics, 2019

Polymorphisms in MMP-14 and MMP-2 genes and ovarian cancer survival.

Vos MC et al.

Cancer Biomarkers : Section a of Disease Markers, 2019

Matrix Metalloproteinases Polymorphisms as Baseline Risk Predictors in Malignant Pleural Mesothelioma.

Strbac D et al.

Radiology and Oncology, 2018

Matrix Metalloproteinases Polymorphisms as Prognostic Biomarkers in Malignant Pleural Mesothelioma.

Štrbac D et al.

Disease Markers, 2017

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Shankar GM et al.

Acta Neuropathologica Communications, 2014

25589003 (PubMed )
Supplement: 40478_2014_167_MOESM1_ESM.xlsx › Supplementary_Table_6

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Positive association of MMP 14 gene polymorphism with vulnerable carotid plaque formation in a Han Chinese population.

Li C et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2014

Single nucleotide polymorphisms and haplotypes of MMP-14 are associated with the risk and pathological development of oral cancer.

Weng CJ et al.

Annals of Surgical Oncology, 2012

Role of MMP14 gene polymorphisms in susceptibility and pathological development to hepatocellular carcinoma.

Chen TY et al.

Annals of Surgical Oncology, 2011

Genetic link between obesity and MMP14-dependent adipogenic collagen turnover.

Chun TH et al.

Diabetes, 2010

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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."