Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.Q79L
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RIT1

NM_006912.6:p.Q79L

Associated Papers

RAS-dependent RAF-MAPK hyperactivation by pathogenic RIT1 is a therapeutic target in Noonan syndrome-associated cardiac hypertrophy.

Cuevas-Navarro A et al.

Science Advances, 2023

Correction to: Oncogenic RIT1 mutations in lung adenocarcinoma.

Berger AH et al.

Oncogene, 2022

Noonan syndrome caused by RIT1 gene mutation: A case report and literature review.

Zha P et al.

Frontiers in Pediatrics, 2022

The RAS GTPase RIT1 compromises mitotic fidelity through spindle assembly checkpoint suppression.

Cuevas-Navarro A et al.

Current Biology : Cb, 2021

The molecular functions of RIT1 and its contribution to human disease.

Van R et al.

The Biochemical Journal, 2020

RIT1 oncoproteins escape LZTR1-mediated proteolysis.

Castel P et al.

Science (new York, N.y.), 2019

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.

Meyer Zum Büschenfelde U et al.

Plos Genetics, 2018

Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).

Fang Z et al.

The Journal of Biological Chemistry, 2016

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

Koenighofer M et al.

Clinical Genetics, 2016

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

Yaoita M et al.

Human Genetics, 2016

Recent advances in RASopathies.

Aoki Y et al.

Journal of Human Genetics, 2016

RASopathies: unraveling mechanisms with animal models.

Jindal GA et al.

Disease Models & Mechanisms, 2015

26203125 (PubMed )
Supplement: supp_8.8.769_DMM020339supp.pdf

Oncogenic RIT1 mutations in lung adenocarcinoma.

Berger AH et al.

Oncogene, 2014

Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Chen PC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies.

Gómez-Seguí I et al.

Leukemia, 2013

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Aoki Y et al.

American Journal of Human Genetics, 2013

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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."