Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C630S
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RET

NM_020975.6:p.C630S

Associated Papers

Multi-center multi-omics integration predicts individualized prognosis in medullary thyroid carcinoma.

Zhou Y et al.

Nature Communications, 2026

41535264 (PubMed )
Supplement: 41467_2025_67533_MOESM3_ESM.xlsx › Sheet1

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

Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.

Margraf RL et al.

Human Mutation, 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

The importance of the RET gene in thyroid cancer and therapeutic implications.

Salvatore D et al.

Nature Reviews. Endocrinology, 2021

[Familial medullary thyroid carcinoma: case report and literature review.]

Barletta Carrillo CF et al.

Revista De La Facultad De Ciencias Medicas (cordoba, Argentina), 2018

PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.

Yokota T et al.

Bmc Cancer, 2018

30115035 (PubMed )
Supplement: 12885_2018_4733_MOESM1_ESM.xlsx › raw_data_of_mutations

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Diversity of mutations in the RET proto-oncogene and its oncogenic mechanism in medullary thyroid cancer.

Hedayati M et al.

Critical Reviews in Clinical Laboratory Sciences, 2016

The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.

Pagan M et al.

Bmc Bioinformatics, 2016

26818556 (PubMed )
Supplement: 12859_2015_849_MOESM3_ESM.pdf

In silico analysis of RET variants in medullary thyroid cancer: from the computer to the bedside.

Heineman TE et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2015

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

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

Management of medullary thyroid carcinoma and MEN2 syndromes in childhood.

Waguespack SG et al.

Nature Reviews. Endocrinology, 2011

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

Crockett DK et al.

Plos One, 2011

A family of multiple endocrine neoplasia type 2A (MEN 2A) with Cys630Tyr RET germline mutation: report of a case.

Yonekawa H et al.

Endocrine Journal, 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

Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma.

Dourisboure RJ et al.

Thyroid : Official Journal of the American Thyroid Association, 2005

Multiple endocrine neoplasia type 2.

Peczkowska M et al.

Familial Cancer, 2005

Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation.

Machens A et al.

Surgery, 2004

[Study of RET protooncogene in multiple endocrine neoplasm 2A and in familial medullary thyroid carcinoma. Clinical pathological findings in asymptomatic carriers].

Belli S et al.

Medicina, 2003

Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan.

Egawa S et al.

Japanese Journal of Clinical Oncology, 1998

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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."