COMT c.117C>G ;(p.N39K)

Variant ID: 22-19950166-C-G

NM_000754.3(COMT):c.117C>G;(p.N39K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology
Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC
Publication Date: 2022-07-08

Variant appearance in text: rs74745580
PubMed Link: 35802478
Variant Present in the following documents:
  • noac171_suppl_suplementary_table_s1.xlsx, sheet 1
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: rs74745580
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 22
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 17
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19
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Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome.

Biological Psychiatry
Gothelf, Doron D; Law, Amanda J AJ; Frisch, Amos A; Chen, Jingshan J; Zarchi, Omer O; Michaelovsky, Elena E; Ren-Patterson, Renee R; Lipska, Barbara K BK; Carmel, Miri M; Kolachana, Bhaskar B; Weizman, Abraham A; Weinberger, Daniel R DR
Publication Date: 2014-03-01

Variant appearance in text: rs74745580
PubMed Link: 23992923
Variant Present in the following documents:
  • Main text
View BVdb publication page