Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.D469N
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RET

NM_020975.6:p.D469N

Associated Papers

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

Exome sequencing reveals mutant genes with low penetrance involved in MEN2A-associated tumorigenesis.

Cai J et al.

Endocrine-related Cancer, 2015

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.

Bär H et al.

Human Mutation, 2007

[Molecular biology, basic research and diagnosis of Hirschsprung's disease].

Martucciello G et al.

Der Pathologe, 2007

Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.

Kjaer S et al.

Human Molecular Genetics, 2003

Molecular modeling of the extracellular domain of the RET receptor tyrosine kinase reveals multiple cadherin-like domains and a calcium-binding site.

Anders J et al.

The Journal of Biological Chemistry, 2001

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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."