Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.Q354*
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RB1

NM_000321.3:p.Q354*

Associated Papers

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Blood, 2025

40700635 (PubMed )
Supplement: BLOOD_BLD-2025-028993-mmc2.xlsx › Supplementary_Table_6

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974131 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_6

Inhibition of Aberrantly Overexpressed Polo-like Kinase 4 Is a Potential Effective Treatment for DNA Damage Repair-Deficient Uterine Leiomyosarcoma.

Lee HHY et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38848043 (PubMed )
Supplement: ccr-23-3720_supplementary_data_s1_suppsd1.xlsx › Small_Variants

Mutation spectrum of retinoblastoma patients in Vietnam.

Linh DNH et al.

Molecular Genetics & Genomic Medicine, 2023

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.

Rojanaporn D et al.

Translational Vision Science & Technology, 2022

36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Bilat__germline__n__938

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › RB1

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S18_SNV-RNA

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Manca A et al.

Journal of Translational Medicine, 2019

31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Discovery_cohort_nsyn_variants

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

George J et al.

Nature Communications, 2018

29535388 (PubMed )
Supplement: 41467_2018_3099_MOESM1_ESM.pdf

Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Cygan KJ et al.

Human Genetics, 2017

Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.

Zhang K et al.

Human Mutation, 2008

Cerebral cavernous malformations: mutations in Krit1.

Verlaan DJ et al.

Neurology, 2002

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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."