Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.Y1062C
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RET

NM_020975.6:p.Y1062C

Associated Papers

RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.

Ricciardi Tenore C et al.

Genes, 2025

41465145 (PubMed )
Supplement: genes-16-01472-s001.zip › genes-3934011-supplementary.pdf

Characterization of the Thyroid Cancer Genomic Landscape by Plasma-Based Circulating Tumor DNA Next-Generation Sequencing.

Tarasova VD et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

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

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

15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.

Hornbeck PV et al.

Nucleic Acids Research, 2019

30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1

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 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

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.

Núñez-Torres R et al.

Bmc Medical Genetics, 2011

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

So MT et al.

Plos One, 2011

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.

Ruiz-Ferrer M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan.

Wu TT et al.

Journal of Human Genetics, 2005

Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?

Fernández RM et al.

Molecular Medicine Reports, 0

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