Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.P83L
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TGFBR1

NM_004612.4:p.P83L

Associated Papers

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

The genomic landscape of cholangiocarcinoma reveals the disruption of post-transcriptional modifiers.

Zhang Y et al.

Nature Communications, 2022

35650238 (PubMed )
Supplement: 41467_2022_30708_MOESM1_ESM.pdf

ROBO1 p.E280* Loses the Inhibitory Effects on the Proliferation and Angiogenesis of Wild-Type ROBO1 in Cholangiocarcinoma by Interrupting SLIT2 Signal.

Zhou T et al.

Frontiers in Oncology, 2022

35615148 (PubMed )
Supplement: DataSheet_1.xlsx › Sheet1

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9.

Goudie D

Genes, 2020

Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.

Sirisomboonwong KE et al.

American Journal of Medical Genetics. Part A, 2018

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Dietz S et al.

Oncotarget, 2017

29088767 (PubMed )
Supplement: oncotarget-08-74049-s002.xlsx › Patient_2_-_Progress

Pattern of TGFbeta receptor 1 expression differs between kras-mutated keratoacanthomas and squamous cell carcinomas of the skin.

Berger F et al.

Pathology, Research and Practice, 2014

Skin tumors induced by sorafenib; paradoxic RAS-RAF pathway activation and oncogenic mutations of HRAS, TP53, and TGFBR1.

Arnault JP et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

Goudie DR et al.

Nature Genetics, 2011

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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."