Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.G12V
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PRKN

NM_004562.3:p.G12V

Associated Papers

The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability.

Abad E et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2024

Rabex-5 E3 and Rab5 GEF domains differ in their regulation of Ras, Notch, and PI3K signaling in Drosophila wing development.

Reimels TA et al.

Plos One, 2024

Inter-Species Rescue of Mutant Phenotype-The Standard for Genetic Analysis of Human Genetic Disorders in Drosophila melanogaster Model.

Ecovoiu AA et al.

International Journal of Molecular Sciences, 2022

Comparative analysis of web-based programs for single amino acid substitutions in proteins.

Choudhury A et al.

Plos One, 2022

35507592 (PubMed )
Supplement: pone.0267084.s001.xlsx › HRAS

A conserved, N-terminal tyrosine signal directs Ras for inhibition by Rabex-5.

Washington C et al.

Plos Genetics, 2020

KRAS, BRAF, and PIK3CA mutations, and patient prognosis in 126 pancreatic cancers: pyrosequencing technology and literature review.

Zhou L et al.

Medical Oncology (northwood, London, England), 2016

Molecular spectrum of KRAS, BRAF, and PIK3CA gene mutation: determination of frequency, distribution pattern in Indian colorectal carcinoma.

Bisht S et al.

Medical Oncology (northwood, London, England), 2014

Clinical and metabolic parameters in non-small cell lung carcinoma and colorectal cancer patients with and without KRAS mutations.

Yilmaz A et al.

International Journal of Environmental Research and Public Health, 2014

Increased expression of BubR1 protects against aneuploidy and cancer and extends healthy lifespan.

Baker DJ et al.

Nature Cell Biology, 2013

Pattern of clinically relevant mutations in consecutive series of Russian colorectal cancer patients.

Yanus GA et al.

Medical Oncology (northwood, London, England), 2013

Detecting KRAS mutations in peripheral blood of colorectal cancer patients by peptide nucleic acid clamp PCR.

Miyano S et al.

Experimental and Therapeutic Medicine, 2012

[Comparison of different methods of molecular-genetic analysis of somatic mutations in K-ras gene in patients with colorectal cancer].

Amosenko FA et al.

Vestnik Rossiiskoi Akademii Meditsinskikh Nauk, 2012

Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways.

Wu J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Skp2 targeting suppresses tumorigenesis by Arf-p53-independent cellular senescence.

Lin HK et al.

Nature, 2010

The status of KRAS mutations in patients with non-small cell lung cancers from mainland China.

Li M et al.

Oncology Reports, 2009

RBEL1 is a novel gene that encodes a nucleocytoplasmic Ras superfamily GTP-binding protein and is overexpressed in breast cancer.

Montalbano J et al.

The Journal of Biological Chemistry, 2007

Patterns of K-ras mutation in colorectal carcinomas from Iran and Italy (a Gruppo Oncologico dell'Italia Meridionale study): influence of microsatellite instability status and country of origin.

Bishehsari F et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2006

Immune recognition of a human renal cancer antigen through post-translational protein splicing.

Hanada K et al.

Nature, 2004

Genomic Characterization of Low- and High-Grade Pancreatic Mucinous Cystic Neoplasms Reveals Recurrent KRAS Alterations in "High-Risk" Lesions.

Conner JR et al.

Pancreas, 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."