Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.L1061P
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RET

NM_020975.6:p.L1061P

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.

Cine N et al.

Annals of Human Genetics, 2023

Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Panda G et al.

Frontiers in Pharmacology, 2022

35865963 (PubMed )
Supplement: Table12.xlsx › Sheet1

Roles of the RET Proto-oncogene in Cancer and Development.

Takahashi M et al.

Jma Journal, 2020

Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Crockett DK et al.

Genome Medicine, 2012

22640420 (PubMed )
Supplement: gm347-S2.DOC

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

Martucciello G et al.

Der Pathologe, 2007

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.

Basel-Vanagaite L et al.

European Journal of Human Genetics : Ejhg, 2007

RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.

Asai N et al.

Pathology International, 2006

Molecular mechanisms of RET-induced Hirschsprung pathogenesis.

Lantieri F et al.

Annals of Medicine, 2006

Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan.

Wu TT et al.

Journal of Human Genetics, 2005

Role of Dok1 in cell signaling mediated by RET tyrosine kinase.

Murakami H et al.

The Journal of Biological Chemistry, 2002

Docking protein FRS2 links the protein tyrosine kinase RET and its oncogenic forms with the mitogen-activated protein kinase signaling cascade.

Melillo RM et al.

Molecular and Cellular Biology, 2001

The insulin receptor substrate (IRS)-1 recruits phosphatidylinositol 3-kinase to Ret: evidence for a competition between Shc and IRS-1 for the binding to Ret.

Melillo RM et al.

Oncogene, 2001

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.

Geneste O et al.

Human Molecular Genetics, 1999

The role of amino acids surrounding tyrosine 1062 in ret in specific binding of the shc phosphotyrosine-binding domain.

Ishiguro Y et al.

Endocrinology, 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."