Varaico: Literature-Extracted Genetic Variants

Gene:BUB1B
Variant:p.R727C
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BUB1B

NM_001211.6:p.R727C

Associated Papers

The genomic and transcriptomic landscape of metastastic urothelial cancer.

Loriot Y et al.

Nature Communications, 2024

39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM10_ESM.xlsx › SuppTable7_eMIBC-Somatic_alt

BUBR1 Pseudokinase Domain Promotes Kinetochore PP2A-B56 Recruitment, Spindle Checkpoint Silencing, and Chromosome Alignment.

Gama Braga L et al.

Cell Reports, 2020

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_TSG

In silico analysis of deleterious single nucleotide polymorphisms in human BUB1 mitotic checkpoint serine/threonine kinase B gene.

Akhoundi F et al.

Meta Gene, 2016

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

Suijkerbuijk SJ et al.

Cancer Research, 2010

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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."