Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.K128insFs
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TGFBR2

NM_003242.6:p.K128insFs

Associated Papers

Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2026

41673532 (PubMed )
Supplement: PCMR-39-0-s001.xlsx › TableS3

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

Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.

Bayanova M et al.

Bmc Nephrology, 2025

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

Grech L et al.

Molecular Genetics & Genomic Medicine, 2025

A Phase III Randomized Trial of Integrated Genomics and Avatar Models for Personalized Treatment of Pancreatic Cancer: The AVATAR Trial.

Sarno F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39540844 (PubMed )
Supplement: ccr-23-4026_supplementary_table_s3_suppts3.xlsx › Table

Rapid Evolution of Metastases in Patients with Treated G3 Neuroendocrine Tumors Associated with NEC-Like Transformation and TP53 Mutation.

Kasajima A et al.

Endocrine Pathology, 2024

Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.

Zhu F et al.

The Journal of International Medical Research, 2024

39053449 (PubMed )
Supplement: sj-xlsx-3-imr-10.1177_03000605241258171.xlsx › Table_S6

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-s002.xlsx › Sheet1

Microsatellite instability and somatic gene variant profile in solid organ tumors.

Erdogdu IH et al.

Archives of Medical Science : Ams, 2024

Clinical and molecular characteristics of kinase domain duplications across diverse cancer types in the Chinese population.

Lai X et al.

Cancer Medicine, 2023

36325957 (PubMed )
Supplement: CAM4-12-6009-s003.xlsx › Table_S2

Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Gan M et al.

Cancer Medicine, 2022

35586877 (PubMed )
Supplement: CAM4-11-4070-s004.xlsx › Table_S1

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

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

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.

Lu J et al.

Cancer Medicine, 2021

33350171 (PubMed )
Supplement: CAM4-10-933-s001.xlsx › SNV

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Jin R et al.

Frontiers in Oncology, 2021

34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR-Mutant_ADC

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

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

Patterns of germline and somatic mutations in 16 genes associated with mismatch repair function or containing tandem repeat sequences.

Chang SC et al.

Cancer Medicine, 2020

31769227 (PubMed )
Supplement: CAM4-9-476-s005.pdf

Contribution of allelic imbalance to colorectal cancer.

Palin K et al.

Nature Communications, 2018

30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR

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

A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.

Frederic MY et al.

Human Mutation, 2008

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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."