Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.N129K
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SMAD4

NM_005359.6:p.N129K

Associated Papers

NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Ramakrishnan G et al.

Cell Reports, 2022

36351408 (PubMed )
Supplement: NIHMS1848910-supplement-2.xlsx › NF1-TP53-pi16INK4A-Smad4

Inter- and intra-tumor profiling of multi-regional colon cancer and metastasis.

Kogita A et al.

Biochemical and Biophysical Research Communications, 2015

A complex pattern of mutations and abnormal splicing of Smad4 is present in thyroid tumours.

Lazzereschi D et al.

Oncogene, 2005

Functional mapping of the MH1 DNA-binding domain of DPC4/SMAD4.

Jones JB et al.

Nucleic Acids Research, 2000

Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients.

Koyama M et al.

Mutation Research, 1999

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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."