Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.A77P
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RIT1

NM_006912.6:p.A77P

Associated Papers

Myelodysplastic Syndrome associated TET2 mutations affect NK cell function and genome methylation.

Boy M et al.

Nature Communications, 2023

36737440 (PubMed )
Supplement: 41467_2023_36193_MOESM1_ESM.pdf

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

RIT1 oncoproteins escape LZTR1-mediated proteolysis.

Castel P et al.

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

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

Kouz K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Expansion of the RASopathies.

Tidyman WE et al.

Current Genetic Medicine Reports, 2016

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

Cavé H et al.

European Journal of Human Genetics : Ejhg, 2016

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

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

Milosavljević D et al.

American Journal of Medical Genetics. Part A, 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

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

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
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