Varaico: Literature-Extracted Genetic Variants

Gene:CREB3L2
Variant:p.T100_S101del1
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CREB3L2

NM_194071.4:p.T100_S101del1

Associated Papers

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.

El Khoury LY et al.

Clinical Epigenetics, 2023

37120552 (PubMed )
Supplement: 13148_2023_1471_MOESM1_ESM.xlsx › S3_Mutations_by_NGS

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

Qi T et al.

International Journal of Medical Sciences, 2021

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Skowron MA et al.

Scientific Reports, 2019

31597922 (PubMed )
Supplement: 41598_2019_50891_MOESM12_ESM.xlsx › Unique_in_253J-LTT

Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Zhou QH et al.

Cell Death & Disease, 2018

29880898 (PubMed )
Supplement: 41419_2018_736_MOESM7_ESM.xlsx › Sheet1

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Bhattacharya S et al.

Genome Research, 2018

29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Exploiting high-throughput cell line drug screening studies to identify candidate therapeutic agents in head and neck cancer.

Nichols AC et al.

Bmc Pharmacology & Toxicology, 2014

25428177 (PubMed )
Supplement: 40360_2014_350_MOESM2_ESM.xlsx › Supp._Table_2

Frequent mutations in TP53 and CDKN2A found by next-generation sequencing of head and neck cancer cell lines.

Nichols AC et al.

Archives of Otolaryngology--head & Neck Surgery, 2012

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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."