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RET c.1827C>G ;(p.C609W)
Variant ID: 10-43609071-C-G
NM_020975.4(
RET
):c.1827C>G;(p.C609W)
This variant was identified in 5 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: C609W; rs377767396
PubMed Link:
35865963
Variant Present in the following documents:
Table12.xlsx, sheet 1
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: C609W
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: C609W
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
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: C609W
PubMed Link:
17384210
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: C609W
PubMed Link:
10921886
Variant Present in the following documents:
Main text
View BVdb publication page