Varaico: Literature-Extracted Genetic Variants

Gene:ROCK2
Variant:p.T431N
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ROCK2

NM_004850.5:p.T431N

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

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis.

Marcos González S et al.

Biomedicines, 2023

37371859 (PubMed )
Supplement: biomedicines-11-01764-s001.zip › biomedicines-2420377-supplementary.pdf

Comprehensive Detection of Single Amino Acid Variants and Evaluation of Their Deleterious Potential in a PANC-1 Cell Line.

Tan Z et al.

Journal of Proteome Research, 2020

Stable expansion of high-grade serous ovarian cancer organoids requires a low-Wnt environment.

Hoffmann K et al.

The Embo Journal, 2020

Characterization of potential driver mutations involved in human breast cancer by computational approaches.

Rajendran BK et al.

Oncotarget, 2017

Uniparental disomy causes deficiencies of vitamin K-dependent proteins.

Dasi MA et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

Maguire SL et al.

The Journal of Pathology, 2016

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2

Investigation of the association between Rho/Rho-kinase gene polymorphisms and systemic sclerosis.

Pehlivan Y et al.

Rheumatology International, 2016

Investigation of the Rho-kinase Gene Polymorphism in Primary Open-angle Glaucoma.

Demiryürek S et al.

Ophthalmic Genetics, 2016

Next generation sequencing of triple negative breast cancer to find predictors for chemotherapy response.

Lips EH et al.

Breast Cancer Research : Bcr, 2015

26433948 (PubMed )
Supplement: 13058_2015_642_MOESM4_ESM.xlsx › somatic_variants_proposal2.txt

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-0007-Table_S10.xlsx › Sheet1

Two functional polymorphisms of ROCK2 enhance arterial stiffening through inhibiting its activity and expression.

Liao YC et al.

Journal of Molecular and Cellular Cardiology, 2015

Association of Rho/Rho-kinase gene polymorphisms and expressions with obesity-related metabolic syndrome.

Tabur S et al.

European Review for Medical and Pharmacological Sciences, 2015

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-A0EM-01A.domain

Is there any association between childhood cardiac septal defects and ROCK2 gene polymorphism?

Aksoy M et al.

Genetics and Molecular Research : Gmr, 2014

Challenges in elucidating the genetics of diabetic retinopathy.

Kuo JZ et al.

Jama Ophthalmology, 2014

Association analysis of polymorphisms in ROCK2 with cardiovascular disease in a Chinese population.

Liu L et al.

Plos One, 2013

Role of rho-kinase gene polymorphisms and protein expressions in colorectal cancer development.

Sari I et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2013

Association of a matrix metallopeptidase 1 gene polymorphism with long-term outcome of thoracic aortic aneurysm.

Kato K et al.

International Journal of Molecular Medicine, 2012

Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of developing metastases of breast cancer.

Kalender ME et al.

Oncology Research, 2010

Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.

Yoshida T et al.

International Journal of Molecular Medicine, 2009

Genetic factors for ischemic and hemorrhagic stroke in Japanese individuals.

Yamada Y et al.

Stroke, 2008

A major haplotype block at the rho-associated kinase 2 locus is associated with a lower risk of hypertension in a recessive manner: the HYPGENE study.

Rankinen T et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2008

Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population.

Yamada Y et al.

Journal of Medical Genetics, 2008

C-reactive protein, an 'intermediate phenotype' for inflammation: human twin studies reveal heritability, association with blood pressure and the metabolic syndrome, and the influence of common polymorphism at catecholaminergic/beta-adrenergic pathway loci.

Wessel J et al.

Journal of Hypertension, 2007

Rho kinase polymorphism influences blood pressure and systemic vascular resistance in human twins: role of heredity.

Seasholtz TM et al.

Hypertension (dallas, Tex. : 1979), 2006

Investigation of the Rho-kinase 2 gene Thr431Asn polymorphism in migraine.

Kuzudisli SU et al.

Neurology India, 0

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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."