Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.K232R
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TGFBR1

NM_004612.4:p.K232R

Associated Papers

MARCH2-mediated Lys63-linked polyubiquitination promotes metastasis by modulating the catalytic activity of TGF-β type I receptor.

Tae K et al.

Cell Death & Disease, 2025

41213909 (PubMed )
Supplement: 41419_2025_8145_MOESM1_ESM.docx

Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.

Abu-Sailik F et al.

Frontiers in Cell and Developmental Biology, 2025

The endometrial cancer A230V-ALK5 (TGFBR1) mutant attenuates TGF-β signaling and exhibits reduced in vitro sensitivity to ALK5 inhibitors.

Yu EJ et al.

Plos One, 2024

TGFβ signalling acts as a molecular brake of myoblast fusion.

Melendez J et al.

Nature Communications, 2021

RAC1B Suppresses TGF-β-Dependent Chemokinesis and Growth Inhibition through an Autoregulatory Feed-Forward Loop Involving PAR2 and ALK5.

Otterbein H et al.

Cancers, 2019

Fscn1 is required for the trafficking of TGF-β family type I receptors during endoderm formation.

Liu Z et al.

Nature Communications, 2016

The kinase activity of the Ser/Thr kinase BUB1 promotes TGF-β signaling.

Nyati S et al.

Science Signaling, 2015

TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.

Cardoso S et al.

Journal of Receptor and Signal Transduction Research, 2012

Phosphorylation of ΔNp63α via a novel TGFβ/ALK5 signaling mechanism mediates the anti-clonogenic effects of TGFβ.

Cherukuri P et al.

Plos One, 2012

Downregulation of hepatocyte nuclear factor-4alpha and its role in regulation of gene expression by TGF-beta in mammary epithelial cells.

Ishikawa F et al.

Experimental Cell Research, 2008

Somatic acquisition and signaling of TGFBR1*6A in cancer.

Pasche B et al.

Jama, 2005

Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex.

Blanco FJ et al.

Journal of Cellular Physiology, 2005

The novel type I serine-threonine kinase receptor Alk8 binds TGF-beta in the presence of TGF-betaRII.

de Caestecker MP et al.

Biochemical and Biophysical Research Communications, 2002

The type I serine/threonine kinase receptor Alk8/Lost-a-fin is required for Bmp2b/7 signal transduction during dorsoventral patterning of the zebrafish embryo.

Bauer H et al.

Development (cambridge, England), 2001

TGF-beta receptor-mediated signalling through Smad2, Smad3 and Smad4.

Nakao A et al.

The Embo Journal, 1997

Phosphorylation of Ser165 in TGF-beta type I receptor modulates TGF-beta1-induced cellular responses.

Souchelnytskyi S et al.

The Embo Journal, 1996

Interaction of the transforming growth factor-beta type I receptor with farnesyl-protein transferase-alpha.

Kawabata M et al.

The Journal of Biological Chemistry, 1995

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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."