Varaico: Literature-Extracted Genetic Variants

Gene:SMAD2
Variant:p.R133C
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SMAD2

NM_005901.6:p.R133C

Associated Papers

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM12_ESM.xls › ____

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Boot A et al.

Genome Research, 2020

32661091 (PubMed )
Supplement: supp_gr.255620.119_Supplemental_Table_S2.xlsx › Sheet1

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM10_ESM.xlsx › Sheet1

Alterations in the Smad pathway in human cancers.

Samanta D et al.

Frontiers in Bioscience (landmark Edition), 2012

To (TGF)beta or not to (TGF)beta: fine-tuning of Smad signaling via post-translational modifications.

Wrighton KH et al.

Cellular Signalling, 2008

Receptor-regulated Smads in TGF-beta signaling.

Liu F

Frontiers in Bioscience : a Journal and Virtual Library, 2003

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

Functional consequences of tumorigenic missense mutations in the amino-terminal domain of Smad4.

Morén A et al.

Oncogene, 2000

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

Expression and mutational analysis of the MADR2/Smad2 gene in human prostate cancer.

Latil A et al.

The Prostate, 1999

Crystal structure of a Smad MH1 domain bound to DNA: insights on DNA binding in TGF-beta signaling.

Shi Y et al.

Cell, 1998

Mutational analysis of the tumor suppressor Smad2 in acute lymphoid and myeloid leukemia.

Wieser R et al.

Leukemia, 1998

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

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."