DPYD c.1494A>G ;(p.Q498=)

Variant ID: 1-98015146-T-C

NM_000110.3(DPYD):c.1494A>G;(p.Q498=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


DPYD Exome, mRNA Expression and Uracil Levels in Early Severe Toxicity to Fluoropyrimidines: An Extreme Phenotype Approach.

Journal Of Personalized Medicine
Villalvazo, Priscila P; Marzal-Alfaro, Belén B; García-Alfonso, Pilar P; Revuelta-Herrero, José Luis JL; Thomas, Fabienne F; López-Tarruella, Sara S; García-González, Xandra X; Calvo, Aitana A; Yakoubi, Malika M; Salvador-Martín, Sara S; López-López, Flora F; Aguilar, Iker I; Sanjurjo-Sáez, María M; Martín, Miguel M; López-Fernández, Luis Andrés LA
Publication Date: 2021-08-13

Variant appearance in text: DPYD: Gln498=; rs116364703
PubMed Link: 34442436
Variant Present in the following documents:
  • Main text
  • jpm-11-00792.pdf
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: DPYD: Q498Q
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 63
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: rs116364703
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Screening of dihydropyrimidine dehydrogenase genetic variants by direct sequencing in different ethnic groups.

Journal Of Korean Medical Science
Shin, Joong-Gon JG; Cheong, Hyun Sub HS; Kim, Jason Yongha JY; Kim, Lyoung Hyo LH; Han, Chang Soo CS; Kim, Ji On JO; Kim, Hae Deun HD; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD
Publication Date: 2013-08

Variant appearance in text: DPYD: Q498Q; rs116364703
PubMed Link: 23960437
Variant Present in the following documents:
  • jkms-28-1129.pdf
View BVdb publication page