Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.Q921H
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BUB1B

NM_001211.6:p.Q921H

Associated Papers

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

Mosaic variegated aneuploidy in development, ageing and cancer.

Malumbres M et al.

Nature Reviews. Genetics, 2024

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585811 (PubMed )
Supplement: media-3.xlsx › Sheet1

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Waks AG et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

35101884 (PubMed )
Supplement: ccr-21-2572_supplementary_table_s6_supps6.xls › Sheet1

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Song H et al.

Journal of Medical Genetics, 2021

32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_6

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Ancestry-specific predisposing germline variants in cancer.

Oak N et al.

Genome Medicine, 2020

32471518 (PubMed )
Supplement: 13073_2020_744_MOESM2_ESM.xlsx › S5b.SomaticRNAseq

Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.

Suijkerbuijk SJ et al.

Cancer Research, 2010

Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.

García-Castillo H et al.

American Journal of Medical Genetics. Part A, 2008

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

Hanks S et al.

Nature Genetics, 2004

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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."