Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R67H
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RET

NM_020975.6:p.R67H

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

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

Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.

Kim B et al.

Annals of Laboratory Medicine, 2024

37903652 (PubMed )
Supplement: alm-44-2-164-supple1.xlsx › Assay_B

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2

Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET.

Sahakian N et al.

Cancers, 2023

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

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 Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.

Canaff L et al.

European Journal of Endocrinology, 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

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

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.

Tan LC et al.

Frontiers in Oncology, 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

The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Yang Z et al.

Journal of Cellular and Molecular Medicine, 2020

Analysis of a pedigree of Peutz-Jeghers syndrome and RET proto-oncogene mutation: one case report and literature review.

Tian LL et al.

Translational Cancer Research, 2020

RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.

Qi XP et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual

The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese.

Qi XP et al.

Cancer Investigation, 2018

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

ARID1B alterations identify aggressive tumors in neuroblastoma.

Lee SH et al.

Oncotarget, 2017

28521285 (PubMed )
Supplement: oncotarget-08-45943-s002.xlsx › SupplTable2

Genomic Profiling of Large-Cell Neuroendocrine Carcinoma of the Lung.

Miyoshi T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27507618 (PubMed )
Supplement: 10780432ccr160355-sup-162074_1_supp_3593422_88n10b.xlsx › Supplementary_Table_7_

Clinicopathologic Features and Germline Sequence Variants in Young Patients (≤40 Years Old) With Pancreatic Ductal Adenocarcinoma.

Ohmoto A et al.

Pancreas, 2016

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Toledo RA et al.

Endocrine-related Cancer, 2015

25425582 (PubMed )
Supplement: supp_ERC-14-0491_Supplementary_table_2.xlsx › Sheet1

Mutated ephrin receptor genes in non-small cell lung carcinoma and their occurrence with driver mutations-targeted resequencing study on formalin-fixed, paraffin-embedded tumor material of 81 patients.

Mäki-Nevala S et al.

Genes, Chromosomes & Cancer, 2013

Prophylactic thyroidectomy for MEN 2-related medullary thyroid carcinoma based on predictive testing for RET proto-oncogene mutation and basal serum calcitonin in China.

Qi XP et al.

European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology, 2013

RET proto-oncogene genetic screening of families with multiple endocrine neoplasia type 2 optimizes diagnostic and clinical management in China.

Qi XP et al.

Thyroid : Official Journal of the American Thyroid Association, 2012

Hereditary medullary thyroid carcinoma: the management dilemma.

Zhou P et al.

Familial Cancer, 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

The role of RET genomic variants in infantile hypertrophic pyloric stenosis.

Serra A et al.

European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Fur Kinderchirurgie, 2011

RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.

Qi XP et al.

Plos One, 2011

Molecular analysis of congenital central hypoventilation syndrome.

Sasaki A et al.

Human Genetics, 2003

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

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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."