Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Y1316fs
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PTCH1

NM_000264.5:p.Y1316fs

Associated Papers

Partial truncation of the C-terminal domain of PTCH1 in cancer promotes tumourigenesis by non-canonical activation of a GLI-PI3K loop.

Caballero-Ruiz B et al.

Oncogene, 2026

Partial Truncation of the C-Terminal Domain of PTCH1 in Cancer Enhances Autophagy and Metabolic Adaptability.

Caballero-Ruiz B et al.

Cancers, 2023

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › cancer_driver

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM14_ESM.xlsx › Sheet1

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1
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