COMT c.438C>T ;(p.A146=)

Variant ID: 22-19951237-C-T

NM_000754.3(COMT):c.438C>T;(p.A146=)

This variant was identified in 8 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: COMT: A146A
PubMed Link: 35802478
Variant Present in the following documents:
  • noac171_suppl_suplementary_table_s1.xlsx, sheet 1
  • noac171_suppl_suplementary_table_s7.xlsx, sheet 1
  • noac171_suppl_suplementary_table_ss9.xls, sheet 1
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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: COMT: A146A
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 21
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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs8192488
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: COMT: A146A; rs8192488
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 19
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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs8192488
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



A low COMT activity haplotype is associated with recurrent preeclampsia in a Norwegian population cohort (HUNT2).

Molecular Human Reproduction
Roten, L T LT; Fenstad, M H MH; Forsmo, S S; Johnson, M P MP; Moses, E K EK; Austgulen, R R; Skorpen, F F
Publication Date: 2011-07

Variant appearance in text: rs8192488
PubMed Link: 21355050
Variant Present in the following documents:
  • Main text
  • gar014.pdf
View BVdb publication page



Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs.

Plos One
Nackley, Andrea G AG; Shabalina, Svetlana A SA; Lambert, Jason E JE; Conrad, Mathew S MS; Gibson, Dustin G DG; Spiridonov, Alexey N AN; Satterfield, Sarah K SK; Diatchenko, Luda L
Publication Date: 2009

Variant appearance in text: rs8192488
PubMed Link: 19365560
Variant Present in the following documents:
  • Main text
  • pone.0005237.pdf
View BVdb publication page



Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Oosterhuis, Bronson E BE; LaForge, K Steven KS; Proudnikov, Dmitri D; Ho, Ann A; Nielsen, David A DA; Gianotti, Robert R; Barral, Sandra S; Gordon, Derek D; Leal, Suzanne M SM; Ott, Jurg J; Kreek, Mary Jeanne MJ
Publication Date: 2008-09-05

Variant appearance in text: rs8192488
PubMed Link: 18270997
Variant Present in the following documents:
  • Main text
View BVdb publication page