Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.V447A
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TGFBR2

NM_003242.6:p.V447A

Associated Papers

Installation of Dominant-Negative Mutations in FAS and TGFβR2 via Base Editing in Primary T Cells.

Wick BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41000687 (PubMed )
Supplement: media-1.pdf

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

The molecular genetics of Marfan syndrome and related disorders.

Robinson PN et al.

Journal of Medical Genetics, 2006

Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer.

Lücke CD et al.

Cancer Research, 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."