Varaico: Literature-Extracted Genetic Variants

Gene:SMAD2
Variant:p.L440R
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SMAD2

NM_005901.6:p.L440R

Associated Papers

Alterations in the Smad pathway in human cancers.

Samanta D et al.

Frontiers in Bioscience (landmark Edition), 2012

Evidence for a role of Smad3 and Smad2 in stabilization of the tumor-derived mutant Smad2.Q407R.

Dumont E et al.

The Journal of Biological Chemistry, 2003

Loss of Smad4 function in pancreatic tumors: C-terminal truncation leads to decreased stability.

Maurice D et al.

The Journal of Biological Chemistry, 2001

Formation of a stable heterodimer between Smad2 and Smad4.

Wu JW et al.

The Journal of Biological Chemistry, 2001

Mutations in the tumor suppressors Smad2 and Smad4 inactivate transforming growth factor beta signaling by targeting Smads to the ubiquitin-proteasome pathway.

Xu J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2000

TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads.

Hata A et al.

Molecular Medicine Today, 1998

MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma.

Eppert K et al.

Cell, 1996

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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."