Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.E481K
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TGFBR2

NM_001024847.3:p.E481K

Associated Papers

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s002.zip › path6432-sup-0003-TableS3.xlsx › Table_S3.1

Loeys-Dietz syndrome associated with a heterozygous mutation in TGFBR2 in a female infant: A case report.

Zhu C et al.

Experimental and Therapeutic Medicine, 2021

Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population.

Chang YS et al.

Cancer Medicine, 2019

31127692 (PubMed )
Supplement: CAM4-8-3738-s001.docx

A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation.

Tug E et al.

Genetic Counseling (geneva, Switzerland), 2010

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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."