Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.S533N
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SMO

NM_005631.5:p.S533N

Associated Papers

Ameloblastoma Displays Primary Cilia Maintenance and CEP164 Overexpression.

Miyazaki R et al.

Journal of Dental Research, 2026

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Phase II Study of Vismodegib in Patients With SMO- or PTCH1-Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T.

Tsao AS et al.

Jco Precision Oncology, 2025

41066729 (PubMed )
Supplement: protocol2_PO-25-00119.pdf

Hedgehog signalling pathway inhibitors in the treatment of basal cell carcinoma: an updated review.

Markota Cagalj A et al.

Journal of Drug Targeting, 2025

Molecular Mechanisms and Targeted Therapies of Advanced Basal Cell Carcinoma.

Hoashi T et al.

International Journal of Molecular Sciences, 2022

Towards Precision Oncology: The Role of Smoothened and Its Variants in Cancer.

Nicheperovich A et al.

Journal of Personalized Medicine, 2022

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Boot A et al.

Genome Research, 2020

32661091 (PubMed )
Supplement: supp_gr.255620.119_Supplemental_Table_S2.xlsx › Sheet1

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Resistance-no-BCR-ABL1

A computational study of hedgehog signalling involved in basal cell carcinoma reveals the potential and limitation of combination therapy.

Buetti-Dinh A et al.

Bmc Cancer, 2018

Basal cell carcinoma pathogenesis and therapy involving hedgehog signaling and beyond.

Bakshi A et al.

Molecular Carcinogenesis, 2017

Genomic analysis of smoothened inhibitor resistance in basal cell carcinoma.

Sharpe HJ et al.

Cancer Cell, 2015

Smoothened variants explain the majority of drug resistance in basal cell carcinoma.

Atwood SX et al.

Cancer Cell, 2015

Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.

Reifenberger J et al.

Cancer Research, 1998

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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."