Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.S922Y
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RET

NM_020975.6:p.S922Y

Associated Papers

Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants.

Fries LE et al.

American Journal of Human Genetics, 2025

Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants.

Fries LE et al.

Biorxiv : the Preprint Server for Biology, 2024

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

Elisei R et al.

Endocrine, 2023

[Intestinal ganglioneuromatosis as an early extra-endocrine manifestation of type 2B multiple endocrine neoplasia].

Averianova JV et al.

Problemy Endokrinologii, 2023

Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility.

Villarroya-Beltri C et al.

Science Advances, 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

Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease.

Kawano T et al.

Pediatric Surgery International, 2017

[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

Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases.

Sallai A et al.

European Journal of Pediatrics, 2008

Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.

Marsh DJ et al.

Expert Opinion on Medical Diagnostics, 2007

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

[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

Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience.

Korpershoek E et al.

Annals of the New York Academy of Sciences, 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

Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2.

Toledo SP et al.

Clinics (sao Paulo, Brazil), 2006

[Genetic screening of multiple endocrine neoplasia type 2: experience of the USP Endocrine Genetics Unit].

Santos MA et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2006

Multiple endocrine neoplasia type 2.

Peczkowska M et al.

Familial Cancer, 2005

Three novel mutations in the RET proto-oncogene.

Kalinin VN et al.

Journal of Molecular Medicine (berlin, Germany), 2001

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