RET c.2939T>C ;(p.M980T)

Variant ID: 10-43619256-T-C

NM_020975.4(RET):c.2939T>C;(p.M980T)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Role of N-Cadherin in Epithelial-to-Mesenchymal Transition and Chemosensitivity of Colon Carcinoma Cells.

Cancers
Skarkova, Veronika V; Vitovcova, Barbora B; Matouskova, Petra P; Manethova, Monika M; Kazimirova, Petra P; Skarka, Adam A; Brynychova, Veronika V; Soucek, Pavel P; Vosmikova, Hana H; Rudolf, Emil E
Publication Date: 2022-10-20

Variant appearance in text: RET: 2939T>C; Met980Thr
PubMed Link: 36291930
Variant Present in the following documents:
  • cancers-14-05146.pdf
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: M980T
PubMed Link: 35865963
Variant Present in the following documents:
  • Table12.xlsx, sheet 1
View BVdb publication page



The RET gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and RET mutation results in Hirschsprung's disease.

Aims Neuroscience
Bhattarai, Chacchu C; Poudel, Phanindra Prasad PP; Ghosh, Arnab A; Kalthur, Sneha Guruprasad SG
Publication Date: 2022

Variant appearance in text: RET: M980T
PubMed Link: 35434281
Variant Present in the following documents:
  • Main text
  • neurosci-09-01-008.pdf
View BVdb publication page



Roles of the RET Proto-oncogene in Cancer and Development.

Jma Journal
Takahashi, Masahide M; Kawai, Kumi K; Asai, Naoya N
Publication Date: 2020-07-15

Variant appearance in text: RET: Met980Thr
PubMed Link: 33150251
Variant Present in the following documents:
  • Main text
  • 2433-3298-3-3-0175.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: RET: M980T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Publication Date: 2019

Variant appearance in text: RET: 2939T>C; M980T
PubMed Link: 31513681
Variant Present in the following documents:
  • pone.0222535.s006.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: RET: M980T
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 20
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: RET: 2939T>C
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: RET: 2939T>C; M980T
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.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: M980T
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: M980T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Human Molecular Genetics
McDonell, Laura M LM; Kernohan, Kristin D KD; Boycott, Kym M KM; Sawyer, Sarah L SL
Publication Date: 2015-10-15

Variant appearance in text: RET: M980T
PubMed Link: 26152202
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: RET: M980T
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



The energy landscape analysis of cancer mutations in protein kinases.

Plos One
Dixit, Anshuman A; Verkhivker, Gennady M GM
Publication Date: 2011

Variant appearance in text: RET: M980T
PubMed Link: 21998754
Variant Present in the following documents:
View BVdb publication page



Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice.

The Journal Of Clinical Investigation
Jain, Sanjay S; Knoten, Amanda A; Hoshi, Masato M; Wang, Hongtao H; Vohra, Bhupinder B; Heuckeroth, Robert O RO; Milbrandt, Jeffrey J
Publication Date: 2010-03

Variant appearance in text: RET: M980T
PubMed Link: 20160347
Variant Present in the following documents:
  • Main text
View BVdb publication page



Computational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability.

Biophysical Journal
Dixit, Anshuman A; Torkamani, Ali A; Schork, Nicholas J NJ; Verkhivker, Gennady G
Publication Date: 2009-02

Variant appearance in text: RET: M980T
PubMed Link: 19186126
Variant Present in the following documents:
  • Main text
View BVdb publication page