RET c.1888T>A ;(p.C630S)

Variant ID: 10-43609936-T-A

NM_020975.4(RET):c.1888T>A;(p.C630S)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Is Encapsulated Medullary Thyroid Carcinoma Associated With a Better Prognosis? A Case Series and a Review of the Literature.

Frontiers In Endocrinology
Contarino, Andrea A; Dolci, Alessia A; Maggioni, Marco M; Porta, Francesca Maria FM; Lopez, Gianluca G; Verga, Uberta U; Elli, Francesca Marta FM; Iofrida, Elisabetta Francesca EF; Cantoni, Gianmaria G; Mantovani, Giovanna G; Arosio, Maura M
Publication Date: 2022

Variant appearance in text: RET: C630S
PubMed Link: 35574005
Variant Present in the following documents:
  • Main text
  • fendo-13-866572.pdf
View BVdb publication page



p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

The Journal Of Clinical Endocrinology And Metabolism
Loveday, Chey C; Josephs, Katherine K; Chubb, Daniel D; Gunning, Adam A; Izatt, Louise L; Tischkowitz, Marc M; Ellard, Sian S; Turnbull, Clare C
Publication Date: 2018-11-01

Variant appearance in text: RET: C630S
PubMed Link: 29590403
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prognostic Impact of miR-224 and RAS Mutations in Medullary Thyroid Carcinoma.

International Journal Of Endocrinology
Cavedon, Elisabetta E; Barollo, Susi S; Bertazza, Loris L; Pennelli, Gianmaria G; Galuppini, Francesca F; Watutantrige-Fernando, Sara S; Censi, Simona S; Iacobone, Maurizio M; Benna, Clara C; Vianello, Federica F; Zovato, Stefania S; Nacamulli, Davide D; Mian, Caterina C
Publication Date: 2017

Variant appearance in text: RET: C630S
PubMed Link: 28676824
Variant Present in the following documents:
  • Main text
  • IJE2017-4915736.pdf
View BVdb publication page



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

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: RET: C630S
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HSCR1: C630S
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: RET: C630S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocrine-Related Cancer
Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP
Publication Date: 2015-02

Variant appearance in text: RET: 1888T>A; C630S
PubMed Link: 25425582
Variant Present in the following documents:
  • supp_ERC-14-0491_Supplementary_table_4.xlsx, sheet 1
View BVdb publication page



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

Plos One
Crockett, David K DK; Piccolo, Stephen R SR; Ridge, Perry G PG; Margraf, Rebecca L RL; Lyon, Elaine E; Williams, Marc S MS; Mitchell, Joyce A JA
Publication Date: 2011-03-30

Variant appearance in text: RET: C630S
PubMed Link: 21479187
Variant Present in the following documents:
  • pone.0018380.pdf
View BVdb publication page



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

The Journal Of Molecular Diagnostics : Jmd
Margraf, Rebecca L RL; Mao, Rong R; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Wittwer, Carl T CT
Publication Date: 2007-04

Variant appearance in text: RET: C630S
PubMed Link: 17384210
Variant Present in the following documents:
  • Main text
View BVdb publication page