Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.R562Q
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SMO

NM_005631.5:p.R562Q

Associated Papers

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

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Acinar Cystic Transformation of the Pancreas: Histomorphology and Molecular Analysis to Unravel its Heterogeneous Nature.

Luchini C et al.

The American Journal of Surgical Pathology, 2023

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

Next generation sequencing in a cohort of patients with rare sarcoma histotypes: A single institution experience.

Tirrò E et al.

Pathology, Research and Practice, 2022

Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.

Valentini V et al.

Frontiers in Oncology, 2022

36686738 (PubMed )
Supplement: Table_3.xlsx › Foglio1

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf

A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

George SL et al.

European Journal of Cancer (oxford, England : 1990), 2019

31543384 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Compound heterozygous mutations in SMO associated with anterior segment dysgenesis and morning glory syndrome.

Zhang J et al.

Gene, 2019

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM3_ESM.xlsx › supplementary_3_filtered

Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies.

Brailey LL et al.

Journal of Cutaneous Pathology, 2007

Hedgehog signalling in cancer.

Toftgård R

Cellular and Molecular Life Sciences : Cmls, 2000

The hedgehog signalling pathway in tumorigenesis and development.

Wicking C et al.

Oncogene, 1999

The patched signaling pathway in tumorigenesis and development: lessons from animal models.

Hahn H et al.

Journal of Molecular Medicine (berlin, Germany), 1999

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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."