Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.V350D
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SMAD4

NM_005359.6:p.V350D

Associated Papers

SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

Loss of SMAD4 function in small intestinal adenocarcinomas: comparison of genetic and immunohistochemical findings.

Bläker H et al.

Pathology, Research and Practice, 2004

Genetics of adenocarcinomas of the small intestine: frequent deletions at chromosome 18q and mutations of the SMAD4 gene.

Bläker H et al.

Oncogene, 2002

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

Hata A et al.

Molecular Medicine Today, 1998

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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."