Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.K23N
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RIT1

NM_006912.6:p.K23N

Associated Papers

Mutant RIT1 cooperates with YAP to drive an EMT-like lung cancer state.

Rominger MC et al.

Cell Reports, 2025

41004338 (PubMed )
Supplement: NIHMS2120069-supplement-2.xlsx › A_-_AACR_GENIE_v17

Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature.

Arrabito M et al.

Genes, 2024

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

Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review.

Suzuki K et al.

Pediatric Blood & Cancer, 2024

A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review.

Tano S et al.

Molecular Genetics and Metabolism Reports, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

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

Zha P et al.

Frontiers in Pediatrics, 2022

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.

Li X et al.

Clinical Genetics, 2019

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

Meyer Zum Büschenfelde U et al.

Plos Genetics, 2018

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

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.

Nemcikova M et al.

European Journal of Pediatrics, 2016

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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."