Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.R1394*
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PTCH1

NM_000264.5:p.R1394*

Associated Papers

POLE Mutation Associated With Microsatellite Instability and High Tumor Mutational Burden Confers Exquisite Sensitivity to Immune Checkpoint Inhibitor Therapy in Non-Small Cell Lung Cancer: A Case Report and Genomic Database Analysis.

Lara MS et al.

Clinical Lung Cancer, 2025

Molecular profiling of basal cell carcinomas in young patients.

Abi Karam M et al.

Bmc Medical Genomics, 2021

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Altaraihi M et al.

Human Genome Variation, 2019

30820324 (PubMed )
Supplement: 41439_2019_41_MOESM1_ESM.xlsx › gnomad_ENSG00000117425_2018_06_

Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.

Ellis HP et al.

Journal of Oncology, 2019

32082376 (PubMed )
Supplement: 4878547.f1.zip › 4878547.f1 › Ellis_et_al_SNVs_041018_Supplementary_Tables.xlsx › TableS7_TCGA_mutatons
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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."