Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.E526Q
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TGFBR2

NM_003242.6:p.E526Q

Associated Papers

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TGFBR2

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.

Cousin MA et al.

Cold Spring Harbor Molecular Case Studies, 2017

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

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Cancer-associated transforming growth factor beta type II receptor gene mutant causes activation of bone morphogenic protein-Smads and invasive phenotype.

Bharathy S et al.

Cancer Research, 2008

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

Frederic MY et al.

Human Mutation, 2008

A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.

Tanaka S et al.

British Journal of Cancer, 2000

Transforming growth factor beta type I receptor kinase mutant associated with metastatic breast cancer.

Chen T et al.

Cancer Research, 1998

TGF-beta and cancer.

Bierie B et al.

Cytokine & Growth Factor Reviews, 0

Alterations in components of the TGF-beta superfamily signaling pathways in human cancer.

Levy L et al.

Cytokine & Growth Factor Reviews, 0

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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."