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RET c.2719A>G ;(p.K907E)
Variant ID: 10-43615640-A-G
NM_020975.4(
RET
):c.2719A>G;(p.K907E)
This variant was identified in 9 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: K907E; rs377767430
PubMed Link:
35865963
Variant Present in the following documents:
Table12.xlsx, sheet 1
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: K907E
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: K907E
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: K907E
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
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: K907E
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 1
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: K907E
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: K907E
PubMed Link:
20160347
Variant Present in the following documents:
Main text
View BVdb publication page
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03
Variant appearance in text: RET: K907E
PubMed Link:
19139070
Variant Present in the following documents:
gkn1008_nar-01723-s-2008-File009.xls, sheet 4
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: K907E
PubMed Link:
10921886
Variant Present in the following documents:
Main text
View BVdb publication page