Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.A641S
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RET

NM_020975.6:p.A641S

Associated Papers

Sporadic medullary thyroid carcinoma with a rare RET transmembrane domain mutation (A641R) that responds to selpercatinib.

Fukuda N et al.

The Oncologist, 2025

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_5

Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.

Elisei R et al.

Endocrine, 2023

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel

CharGer: clinical Characterization of Germline variants.

Scott AD et al.

Bioinformatics (oxford, England), 2019

30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2

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

Expression pattern of carbonic anhydrase IX in Medullary thyroid carcinoma supports a role for RET-mediated activation of the HIF pathway.

Takacova M et al.

The American Journal of Pathology, 2014

[Hereditary thyroid carcinoma and its molecular diagnostics].

Dvořáková S et al.

Ceskoslovenska Patologie, 2014

Assessing the effect of RET transmembrane domain mutations in receptor self-association capability using the in vivo TOXCAT system.

Benej M et al.

Neoplasma, 2013

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 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

[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

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

Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome.

Poturnajova M et al.

Journal of Molecular Medicine (berlin, Germany), 2005

Absence of BRAF mutation in pheochromocytoma and paraganglioma.

Vosecka T et al.

Neoplasma, 0

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