Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.F82C
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RIT1

NM_006912.6:p.F82C

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

RIT1 Drives Oncogenic Transformation and Is an Actionable Target in Lung Adenocarcinoma.

Mozzarelli AM et al.

Cancer Research, 2025

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

40085681 (PubMed )
Supplement: elife-96519-supp3.xlsx › ALL-SNV

UBTF tandem duplications in pediatric myelodysplastic syndrome and acute myeloid leukemia: implications for clinical screening and diagnosis.

Barajas JM et al.

Haematologica, 2024

38426285 (PubMed )
Supplement: 2023_284683_BARAJAS_SUPPL.pdf

RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta-analysis.

Makhamreh MM et al.

American Journal of Medical Genetics. Part A, 2024

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing.

Miceikaitė I et al.

The New England Journal of Medicine, 2023

37991863 (PubMed )
Supplement: nejmc2307918_appendix.pdf

UBTF Tandem Duplications in Pediatric MDS and AML: Implications for Clinical Screening and Diagnosis.

Barajas JM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

38014207 (PubMed )
Supplement: media-5.xlsx › Sheet1

Comprehensive prenatal diagnostics: Exome versus genome sequencing.

Miceikaite I et al.

Prenatal Diagnosis, 2023

Impaired Proteolysis of Noncanonical RAS Proteins Drives Clonal Hematopoietic Transformation.

Chen S et al.

Cancer Discovery, 2022

Designing Myeloid Gene Panels.

Zhao F et al.

Archives of Pathology & Laboratory Medicine, 2022

Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.

Qiu Z et al.

Taiwanese Journal of Obstetrics & Gynecology, 2022

Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer.

Vichas A et al.

Nature Communications, 2021

34373451 (PubMed )
Supplement: 41467_2021_24841_MOESM10_ESM.xlsx › sheet1

Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.

Miceikaite I et al.

Clinical Case Reports, 2021

Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.

Pauta M et al.

Fetal Diagnosis and Therapy, 2021

Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?

Miranda J et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2020

Mutations predictive of hyperactive Ras signaling correlate with inferior survival across high-risk pediatric acute leukemia.

Ney GM et al.

Translational Pediatrics, 2020

Primary renal well-differentiated neuroendocrine tumour (carcinoid): next-generation sequencing study of 11 cases.

Pivovarcikova K et al.

Histopathology, 2019

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Ma X et al.

Nature, 2018

29489755 (PubMed )
Supplement: NIHMS939556-supplement-Table_2-7.xlsx › TableS4

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.

Yates CL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.

Merlevede J et al.

Nature Communications, 2016

26908133 (PubMed )
Supplement: ncomms10767-s2.xls › Feuille1

Oncogenic RIT1 mutations in lung adenocarcinoma.

Berger AH et al.

Oncogene, 2014

24469055 (PubMed )
Supplement: 41388_2014_BFonc2013581_MOESM15_ESM.pdf

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

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."