Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R216H
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RNF43

NM_001305545.1:p.R216H

Associated Papers

Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.

Miolo G et al.

International Journal of Molecular Sciences, 2025

RNF43 and ZNRF3: Versatile regulators at the membrane and their role in cancer.

Li S et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2024

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM16_ESM.xlsx › S16

Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes.

Mahmood K et al.

Gastroenterology, 2023

37453563 (PubMed )
Supplement: NIHMS1962932-supplement-1.pdf

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel

Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.

Lee NY et al.

Human Genomics, 2022

Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.

Villafranca-Magdalena B et al.

International Journal of Molecular Sciences, 2022

35682944 (PubMed )
Supplement: ijms-23-06266-s001.zip › Table_S5.xlsx › Hoja1

Circulating Tumor DNA Profiling of a Diffuse Large B Cell Lymphoma Patient with Secondary Acute Myeloid Leukemia.

Kerle IA et al.

Cancers, 2022

35326522 (PubMed )
Supplement: cancers-14-01371-s001.zip › Supplemental_Table_S1_-_Mutations_identified_by_targeted_sequencing_of_plasma_DNA.xlsx › Supplemental_Table_1

Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Cowan RW et al.

Clinical and Translational Gastroenterology, 2021

34797250 (PubMed )
Supplement: ct9-12-e00431-s005.xlsx › SDC5

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

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM11_ESM.xlsx › Supplementary_Data_8

A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.

Bell S et al.

Communications Biology, 2021

33536631 (PubMed )
Supplement: 42003_2020_1575_MOESM4_ESM.xlsx › Supplementary_Data_2

Loss of RNF43 Function Contributes to Gastric Carcinogenesis by Impairing DNA Damage Response.

Neumeyer V et al.

Cellular and Molecular Gastroenterology and Hepatology, 2021

The Functional Landscape of Patient-Derived RNF43 Mutations Predicts Sensitivity to Wnt Inhibition.

Yu J et al.

Cancer Research, 2020

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s006.xlsx › Validation_Mutations

Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas.

Wood LD et al.

Virchows Archiv : an International Journal of Pathology, 2017

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