Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.P129fs
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TGFBR2

NM_003242.6:p.P129fs

Associated Papers

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.

Grech L et al.

Molecular Genetics & Genomic Medicine, 2025

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

High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Kostecka A et al.

Npj Breast Cancer, 2022

35768433 (PubMed )
Supplement: 41523_2022_443_MOESM6_ESM.xlsx › Truncating_variants

Viral and Genomic Drivers of Squamous Cell Neoplasms Arising in the Lacrimal Drainage System.

Ramberg I et al.

Cancers, 2022

35626161 (PubMed )
Supplement: cancers-14-02558-s001.zip › cancers-1665009-supplementary.pdf

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells.

Yamaura T et al.

Oncotarget, 2018

30680068 (PubMed )
Supplement: oncotarget-09-37534-s002.xlsx › MSI-H

Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors.

Ahlborn LB et al.

Oncotarget, 2018

30220966 (PubMed )
Supplement: oncotarget-09-32570-s002.pdf
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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."