Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.K277R
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TGFBR2

NM_003242.6:p.K277R

Associated Papers

TGFβ signalling acts as a molecular brake of myoblast fusion.

Melendez J et al.

Nature Communications, 2021

Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.

Yang H et al.

Orphanet Journal of Rare Diseases, 2020

Targeted sequencing of cancer-related genes in nasopharyngeal carcinoma identifies mutations in the TGF-β pathway.

Chung AK et al.

Cancer Medicine, 2019

TGF-β triggers rapid fibrillogenesis via a novel TβRII-dependent fibronectin-trafficking mechanism.

Varadaraj A et al.

Molecular Biology of the Cell, 2017

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Ashktorab H et al.

Oncotarget, 2017

28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › TGFBR2.Ion

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.

Zimmermann MT et al.

Plos One, 2017

Novel permissive role of epidermal growth factor in transforming growth factor beta (TGF-beta) signaling and growth suppression. Mediation by stabilization of TGF-beta receptor type II.

Song K et al.

The Journal of Biological Chemistry, 2006

A 7.1 kbp beta-myosin heavy chain promoter, efficient for green fluorescent protein expression, probably induces lethality when overexpressing a mutated transforming growth factor-beta type II receptor in transgenic mice.

Allegra S et al.

Transgenic Research, 2005

Smads in human trophoblast cells: expression, regulation and role in TGF-beta-induced transcriptional activity.

Wu D et al.

Molecular and Cellular Endocrinology, 2001

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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."