RET c.2284G>C ;(p.E762Q)

Variant ID: 10-43612179-G-C

NM_020975.4(RET):c.2284G>C;(p.E762Q)

This variant was identified in 8 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: E762Q
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: E762Q
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: E762Q
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: E762Q
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Activity of the novel BCR kinase inhibitor IQS019 in preclinical models of B-cell non-Hodgkin lymphoma.

Journal Of Hematology & Oncology
Balsas, P P; Esteve-Arenys, A A; Roldán, J J; Jiménez, L L; Rodríguez, V V; Valero, J G JG; Chamorro-Jorganes, A A; de la Bellacasa, R Puig RP; Teixidó, J J; Matas-Céspedes, A A; Moros, A A; Martínez, A A; Campo, E E; Sáez-Borderías, A A; Borrell, J I JI; Pérez-Galán, P P; Colomer, D D; Roué, G G
Publication Date: 2017-03-31

Variant appearance in text: RET: E762Q
PubMed Link: 28359287
Variant Present in the following documents:
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: E762Q
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: E762Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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: E762Q
PubMed Link: 21998754
Variant Present in the following documents:
View BVdb publication page