Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.K128fs
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TGFBR2

NM_003242.6:p.K128fs

Associated Papers

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.

Park C et al.

Esmo Open, 2025

39778225 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_2

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1

Phenotypic plasticity and genetic control in colorectal cancer evolution.

Househam J et al.

Nature, 2022

36289336 (PubMed )
Supplement: 41586_2022_5311_MOESM10_ESM.xlsx › Fig3a

NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.

Wang H et al.

Cancer Medicine, 2022

35506567 (PubMed )
Supplement: CAM4-11-2541-s004.pdf

Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome.

Asano T et al.

Ophthalmic Genetics, 2021

SMAD4 is critical in suppression of BRAF-V600E serrated tumorigenesis.

Tong K et al.

Oncogene, 2021

Case Report: Immune and Genomic Characteristics Associated With Hyperprogression in a Patient With Metastatic Deficient Mismatch Repair Gastrointestinal Cancer Treated With Anti-PD-1 Antibody.

Zhou W et al.

Frontiers in Immunology, 2021

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s011.xlsx › Sheet1

Telomere alterations in neurofibromatosis type 1-associated solid tumors.

Rodriguez FJ et al.

Acta Neuropathologica Communications, 2019

31462295 (PubMed )
Supplement: 40478_2019_792_MOESM1_ESM.pdf
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