Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.F82I
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RIT1

NM_006912.6:p.F82I

Associated Papers

Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.

Jeong Y

Leukemia & Lymphoma, 2025

39819262 (PubMed )
Supplement: supplement_1.pdf

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › RIT1

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

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

Yaoita M et al.

Human Genetics, 2016

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

Gómez-Seguí I et al.

Leukemia, 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."