Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.R255C
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TGFBR1

NM_004612.4:p.R255C

Associated Papers

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.

Thompson L et al.

Frontiers in Pediatrics, 2024

38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1

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

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS6.RecurrenceClusters
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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."