Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R844L
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RET

NM_020975.6:p.R844L

Associated Papers

Natural history of medullary thyroid carcinoma in MEN 2 patients carrying a variant at codon 804 in the RET proto-oncogene: A study by the French Neuroendocrine Tumor Group (GTE).

Suteau V et al.

Annales D'endocrinologie, 2025

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

40085681 (PubMed )
Supplement: elife-96519-supp3.xlsx › ALL-SNV

β-Catenin alterations in testicular Leydig cell tumour: a immunohistochemical and molecular analysis.

Kitagawa Y et al.

Histopathology, 2024

MAB21L4 Deficiency Drives Squamous Cell Carcinoma via Activation of RET.

Srivastava A et al.

Cancer Research, 2022

Multidimensional Molecular Profiling of Metastatic Triple-Negative Breast Cancer and Immune Checkpoint Inhibitor Benefit.

Barroso-Sousa R et al.

Jco Precision Oncology, 2022

35797509 (PubMed )
Supplement: DS.PO.21.00413.xlsx › Supp_Table_S2

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

GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review.

Maciel RMB et al.

European Journal of Endocrinology, 2021

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

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL et al.

Cell, 2018

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Lebeault M et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

Classification of small molecule protein kinase inhibitors based upon the structures of their drug-enzyme complexes.

Roskoski R

Pharmacological Research, 2016

RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.

Qi XP et al.

Oncotarget, 2015

Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment.

Kihara M et al.

European Thyroid Journal, 2014

[Hereditary thyroid carcinoma and its molecular diagnostics].

Dvořáková S et al.

Ceskoslovenska Patologie, 2014

In silico profiling and structural insights of missense mutations in RET protein kinase domain by molecular dynamics and docking approach.

George Priya Doss C et al.

Molecular Biosystems, 2014

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

Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

Crockett DK et al.

Plos One, 2011

RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.

Mukherjee S et al.

Clinical Genetics, 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

Beyond RET: potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma.

Santarpia L et al.

Journal of Internal Medicine, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

Margraf RL et al.

The Journal of Molecular Diagnostics : Jmd, 2007

Structure and chemical inhibition of the RET tyrosine kinase domain.

Knowles PP et al.

The Journal of Biological Chemistry, 2006

RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B.

Cranston AN et al.

Cancer Research, 2006

[Thyroid carcinomas and Hirschsprung's disease--10-year experience with molecular genetic testing of the RET proto-oncogene].

Bendlová B et al.

Vnitrni Lekarstvi, 2006

RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors.

de Groot JW et al.

Endocrine Reviews, 2006

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

Kim JH et al.

Journal of Pediatric Surgery, 2006

New multiple somatic mutations in the RET proto-oncogene associated with a sporadic medullary thyroid carcinoma.

Dvoráková S et al.

Thyroid : Official Journal of the American Thyroid Association, 2006

Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.

Ahmed SA et al.

The Journal of Molecular Diagnostics : Jmd, 2005

Minireview: RET: normal and abnormal functions.

Santoro M et al.

Endocrinology, 2004

Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease.

Brauckhoff M et al.

World Journal of Surgery, 2004

Dysfunction of the RET receptor in human cancer.

Santoro M et al.

Cellular and Molecular Life Sciences : Cmls, 2004

Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors.

Carlomagno F et al.

Oncogene, 2004

Medullary thyroid carcinoma.

Brauckhoff M et al.

Scandinavian Journal of Surgery : Sjs : Official Organ for the Finnish Surgical Society and the Scandinavian Surgical Society, 2004

C-cell hyperplasia and medullary thyroid carcinoma: clinicopathological and genetic correlations in 66 consecutive patients.

Guyétant S et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2003

Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918.

Menko FH et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Cancers connected with mutations in RET proto-oncogene.

Altanerová V

Neoplasma, 2001

The RET proto-oncogene in human cancers.

Jhiang SM

Oncogene, 2000

A RET double mutation in the germline of a kindred with FMTC.

Bartsch DK et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2000

Detection of the PTC/retTPC oncogene in human thyroid cancers.

Jhiang SM et al.

Oncogene, 1992

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