Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.D489N
Back to variants list

RET

NM_020975.6:p.D489N

Associated Papers

Integrating functional proteomics and next generation sequencing reveals potential therapeutic targets for Taiwanese breast cancer.

Ku WC et al.

Clinical Proteomics, 2025

39844043 (PubMed )
Supplement: 12014_2025_9526_MOESM2_ESM.xlsx › ___1

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors.

Marques Da Costa ME et al.

Communications Biology, 2023

37723198 (PubMed )
Supplement: 42003_2023_5320_MOESM4_ESM.xlsx › Suppl._Data_1

Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients.

Li C et al.

Frontiers in Genetics, 2023

36936415 (PubMed )
Supplement: Table2.XLSX › RET

Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity.

Higuchi T et al.

Journal of Pediatric Genetics, 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

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.

Kamai T et al.

Cancer Science, 2021

Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Tsui DWY et al.

Genome Medicine, 2021

34059130 (PubMed )
Supplement: 13073_2021_898_MOESM3_ESM.xlsx › SuppTable1

Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.

Qi XP et al.

Bmc Cancer, 2021

Understanding protein structural changes for oncogenic missense variants.

Hernandez R et al.

Heliyon, 2021

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.

Karim A et al.

Frontiers in Pediatrics, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.

Li L et al.

Frontiers in Endocrinology, 2020

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.

Jiang Q et al.

Orphanet Journal of Rare Diseases, 2019

Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Jiang J et al.

Journal of Personalized Medicine, 2018

Tumorigenicity-associated characteristics of human iPS cell lines.

Yasuda S et al.

Plos One, 2018

30286143 (PubMed )
Supplement: pone.0205022.s007.xlsx › Sheet1

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing.

DU ZF et al.

Journal of Biosciences, 2017

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Tang CS et al.

Human Molecular Genetics, 2016

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

Widowati T et al.

European Journal of Human Genetics : Ejhg, 2016

In silico analysis of RET variants in medullary thyroid cancer: from the computer to the bedside.

Heineman TE et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2015

PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.

Liebrechts-Akkerman G et al.

International Journal of Legal Medicine, 2014

Correlation between multiple RET mutations and severity of Hirschsprung's disease.

Ishii K et al.

Pediatric Surgery International, 2013

Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.

Carter TC et al.

Journal of Human Genetics, 2012

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

Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan.

Chang CF et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2009

A transforming MET mutation discovered in non-small cell lung cancer using microarray-based resequencing.

Tengs T et al.

Cancer Letters, 2006

Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease.

Kim JH et al.

Journal of Pediatric Surgery, 2006

Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype.

Garcia-Barceló MM et al.

Journal of Medical Genetics, 2003

Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.

Kanai M et al.

The Tohoku Journal of Experimental Medicine, 2002

De novo RET proto-oncogene mutation in a patient with multiple endocrine neoplasia type 2B.

Chang TJ et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 1999

Germline RET proto-oncogene mutations in two Taiwanese families with multiple endocrine neoplasia type 2A.

Wu SL et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 1998

RET protooncogene mutations in patients with apparently sporadic medullary thyroid carcinoma.

Huang CN et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 1998

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."