Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.E480K
Back to variants list

RET

NM_020975.6:p.E480K

Associated Papers

A systematic evaluation of the therapeutic potential of endogenous-ADAR editors in cancer prevention and treatment.

Merdler-Rabinowicz R et al.

Nar Cancer, 2025

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1

An integrative pan cancer analysis of RET aberrations and their potential clinical implications.

Zhou L et al.

Scientific Reports, 2022

35978072 (PubMed )
Supplement: 41598_2022_17791_MOESM3_ESM.xlsx › table

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

The RET gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and RET mutation results in Hirschsprung's disease.

Bhattarai C et al.

Aims Neuroscience, 2022

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

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_2.xlsx › Cosmic_Annotated_Mutations

Genotyping of Circulating Tumor DNA Reveals the Clinically Actionable Mutation Landscape of Advanced Colorectal Cancer.

Cao W et al.

Molecular Cancer Therapeutics, 2019

31015309 (PubMed )
Supplement: 15357163mct181247-sup-211489_2_supp_5355372_pn7d76.pdf

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

McDonell LM et al.

Human Molecular Genetics, 2015

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

So MT et al.

Plos One, 2011

Functional analysis of the 5' regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen.

du Plessis N et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2009

A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.

Moore SW et al.

Journal of Pediatric Surgery, 2008

[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

Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.

Julies MG et al.

European Journal of Human Genetics : Ejhg, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."