Varaico: Literature-Extracted Genetic Variants

Gene:SUFU
Variant:p.P341Splc
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SUFU

NM_016169.4:p.P341Splc

Associated Papers

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

Mosaic SUFU mutation associated with a mild phenotype of multiple hereditary infundibulocystic basal cell carcinoma syndrome.

Hamada M et al.

The Journal of Dermatology, 2025

Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome.

Verkouteren BJ et al.

Journal of Clinical Pathology, 2023

Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.

Alba-Pavón P et al.

Cancers, 2022

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.

Serpieri V et al.

Journal of Medical Genetics, 2022

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

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

Chen Y et al.

Frontiers in Oncology, 2022

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Schröder S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.

Behjati S et al.

Nature Communications, 2017

28643781 (PubMed )
Supplement: ncomms15936-s5.xlsx › Driver_list

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.

Slade I et al.

Familial Cancer, 2011

Identification of a SUFU germline mutation in a family with Gorlin syndrome.

Pastorino L et al.

American Journal of Medical Genetics. Part A, 2009

Mutations in SUFU predispose to medulloblastoma.

Taylor MD et al.

Nature Genetics, 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."