RET c.3116C>T ;(p.P1039L)

Variant ID: 10-43622099-C-T

NM_020975.4(RET):c.3116C>T;(p.P1039L)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: RET: 3116C>T; Pro1039Leu; rs79853121
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



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: P1039L; rs79853121
PubMed Link: 35865963
Variant Present in the following documents:
  • Table12.xlsx, sheet 1
View BVdb publication page



Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Cancer Research And Treatment
Lee, Youngwoo Y; Lee, Soohyeon S; Sung, Jae Sook JS; Chung, Hee-Joon HJ; Lim, Ah-Reum AR; Kim, Ju Won JW; Choi, Yoon Ji YJ; Park, Kyong Hwa KH; Kim, Yeul Hong YH
Publication Date: 2021-01

Variant appearance in text: RET: P1039L
PubMed Link: 32810930
Variant Present in the following documents:
  • crt-2020-559-suppl3.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: RET: 3116C>T; Pro1039Leu; rs79853121
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs79853121
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RET: 3116C>T; Pro1039Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: N/A
PubMed Link: 26659599
Variant Present in the following documents:
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: P1039L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.

Journal Of Medical Genetics
de Pontual, L L; Pelet, A A; Trochet, D D; Jaubert, F F; Espinosa-Parrilla, Y Y; Munnich, A A; Brunet, J-F JF; Goridis, C C; Feingold, J J; Lyonnet, S S; Amiel, J J
Publication Date: 2006-05

Variant appearance in text: RET: P1039L
PubMed Link: 16443855
Variant Present in the following documents:
  • Main text
View BVdb publication page



The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease.

The Embo Journal
Bordeaux, M C MC; Forcet, C C; Granger, L L; Corset, V V; Bidaud, C C; Billaud, M M; Bredesen, D E DE; Edery, P P; Mehlen, P P
Publication Date: 2000-08-01

Variant appearance in text: RET: P1039L
PubMed Link: 10921886
Variant Present in the following documents:
  • Main text
View BVdb publication page