RET c.1889G>T ;(p.C630F)

Variant ID: 10-43609937-G-T

NM_020975.4(RET):c.1889G>T;(p.C630F)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology
Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A
Publication Date: 2022

Variant appearance in text: RET: C630F; rs377767405
PubMed Link: 35865963
Variant Present in the following documents:
  • Table12.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Plos One
Giannoulatou, Eleni E; Maher, Geoffrey J GJ; Ding, Zhihao Z; Gillis, Ad J M AJM; Dorssers, Lambert C J LCJ; Hoischen, Alexander A; Rajpert-De Meyts, Ewa E; , ; McVean, Gilean G; Wilkie, Andrew O M AOM; Looijenga, Leendert H J LHJ; Goriely, Anne A
Publication Date: 2017

Variant appearance in text: MEN2A: C630F
PubMed Link: 28542371
Variant Present in the following documents:
  • pone.0178169.s009.xlsx, sheet 3
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: C630F
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: C630F
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: C630F
PubMed Link: 25425582
Variant Present in the following documents:
  • supp_ERC-14-0491_Supplementary_table_3.xlsx, sheet 1
View BVdb publication page



Plot protein: visualization of mutations.

Journal Of Clinical Bioinformatics
Turner, Tychele T
Publication Date: 2013-07-22

Variant appearance in text: MEN2A: C630F
PubMed Link: 23876180
Variant Present in the following documents:
  • 2043-9113-3-14.pdf
View BVdb publication page



Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

Nature Genetics
Goriely, Anne A; Hansen, Ruth M S RM; Taylor, Indira B IB; Olesen, Inge A IA; Jacobsen, Grete Krag GK; McGowan, Simon J SJ; Pfeifer, Susanne P SP; McVean, Gilean A T GA; Rajpert-De Meyts, Ewa E; Wilkie, Andrew O M AO
Publication Date: 2009-11

Variant appearance in text: RET: C630F
PubMed Link: 19855393
Variant Present in the following documents:
  • NIHMS27834-supplement-2.xls, sheet 1
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: C630F
PubMed Link: 17384210
Variant Present in the following documents:
  • Main text
View BVdb publication page



Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

Japanese Journal Of Cancer Research : Gann
Uchino, S S; Noguchi, S S; Yamashita, H H; Sato, M M; Adachi, M M; Yamashita, H H; Watanabe, S S; Ohshima, A A; Mitsuyama, S S; Iwashita, T T; Takahashi, M M
Publication Date: 1999-11

Variant appearance in text: RET: C630F
PubMed Link: 10622534
Variant Present in the following documents:
  • CAS-90-1231.pdf
View BVdb publication page