Varaico: Literature-Extracted Genetic Variants

Gene:SUFU
Variant:p.R146*
Back to variants list

SUFU

NM_016169.4:p.R146*

Associated Papers

Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.

van Opijnen MP et al.

Npj Genomic Medicine, 2025

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.

Guerrini-Rousseau L et al.

Journal of Medical Genetics, 2022

35768194 (PubMed )
Supplement: jmedgenet-2021-108385supp005.pdf

Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review.

Chen Y et al.

Frontiers in Oncology, 2022

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM11_ESM.xlsx › Sheet1

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM et al.

The Lancet. Oncology, 2018

29753700 (PubMed )
Supplement: mmc1.pdf

Medulloblastoma in a toddler with Gorlin syndrome.

Al-Rahawan MG et al.

Proceedings (baylor University. Medical Center), 2018

Genomic and transcriptomic analyses match medulloblastoma mouse models to their human counterparts.

Pöschl J et al.

Acta Neuropathologica, 2014

Genomic and molecular characterization of esophageal squamous cell carcinoma.

Lin DC et al.

Nature Genetics, 2014

24686850 (PubMed )
Supplement: NIHMS573166-supplement-9.xlsx › Supplementary_Table_11
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."