Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.V404M
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SMO

NM_005631.5:p.V404M

Associated Papers

Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes.

Nagai-Tanima M et al.

Human Mutation, 2020

SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-frequency Variants in Plasma cfDNA Samples.

Ren Y et al.

Genomics, Proteomics & Bioinformatics, 2020

32428603 (PubMed )
Supplement: mmc6.xlsx › HD701

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Validation Strategy for Ultrasensitive Mutation Detection.

Debeljak M et al.

Molecular Diagnosis & Therapy, 2018

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Dallol A et al.

Journal of Translational Medicine, 2016

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

Rolling the Genetic Dice: Neutral and Deleterious Smoothened Mutations in Drug-Resistant Basal Cell Carcinoma.

Atwood SX et al.

The Journal of Investigative Dermatology, 2015

Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Betge J et al.

Plos One, 2015

26010451 (PubMed )
Supplement: pone.0127146.s012.pdf

Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.

Tone AA et al.

Bmc Cancer, 2014

25523272 (PubMed )
Supplement: 12885_2014_5198_MOESM14_ESM.xlsx › Sheet1__2_

High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Kim S et al.

Plos One, 2014

25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat

Smoothened gene mutations found in digestive cancer have no aberrant Hedgehog signaling activity.

Guleng B et al.

Journal of Gastroenterology, 2006

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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."