COMT c.615+75G>A

Variant ID: 22-19951897-G-A

NM_000754.3(COMT):c.615+75G>A

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs4646315
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: N/A
PubMed Link: 36755093
Variant Present in the following documents:
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs4646315
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4646315
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs4646315
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



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: rs4646315
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
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs4646315
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A common polymorphism of COMT was associated with symptomatic lumbar disc herniation based on a large sample with Chinese Han ancestry.

Scientific Reports
Liu, Hongliang H; Zhao, Hongmou H; Li, Zhong Z; Xue, Hanzhong H; Lu, Jun J; Ma, Wei W
Publication Date: 2018-08-29

Variant appearance in text: rs4646315
PubMed Link: 30158547
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_31240.pdf
View BVdb publication page



Dopaminergic and Opioid Pathways Associated with Impulse Control Disorders in Parkinson's Disease.

Frontiers In Neurology
Erga, Aleksander H AH; Dalen, Ingvild I; Ushakova, Anastasia A; Chung, Janete J; Tzoulis, Charalampos C; Tysnes, Ole Bjørn OB; Alves, Guido G; Pedersen, Kenn Freddy KF; Maple-Grødem, Jodi J
Publication Date: 2018

Variant appearance in text: rs4646315
PubMed Link: 29541058
Variant Present in the following documents:
  • Main text
  • fneur-09-00109.pdf
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: rs4646315
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Cold Spring Harbor Molecular Case Studies
Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Publication Date: 2016-01

Variant appearance in text: rs4646315
PubMed Link: 27148581
Variant Present in the following documents:
  • supp_2.1.a000687_Supp_Table_2.xlsx, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs4646315
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s2.xls, sheet 1
View BVdb publication page



Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
Camilleri, Michael M; Klee, Eric W EW; Shin, Andrea A; Carlson, Paula P; Li, Ying Y; Grover, Madhusudan M; Zinsmeister, Alan R AR
Publication Date: 2014-01-01

Variant appearance in text: rs4646315
PubMed Link: 24200957
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort.

Journal Of Psychiatric Research
Kukshal, Prachi P; Kodavali, Venkat Chowdari VC; Srivastava, Vibhuti V; Wood, Joel J; McClain, Lora L; Bhatia, Triptish T; Bhagwat, A M AM; Deshpande, Smita Neelkanth SN; Nimgaonkar, Vishwajit Laxmikant VL; Thelma, B K BK
Publication Date: 2013-11

Variant appearance in text: rs4646315
PubMed Link: 23932573
Variant Present in the following documents:
  • Main text
View BVdb publication page



No association between germline variation in catechol-O-methyltransferase and colorectal cancer survival in postmenopausal women.

Menopause (New York, N.Y.)
Passarelli, Michael N MN; Newcomb, Polly A PA; Makar, Karen W KW; Burnett-Hartman, Andrea N AN; Phipps, Amanda I AI; David, Sean P SP; Hsu, Li L; Harrison, Tabitha A TA; Hutter, Carolyn M CM; Duggan, David J DJ; White, Emily E; Chan, Andrew T AT; Peters, Ulrike U
Publication Date: 2014-04

Variant appearance in text: rs4646315
PubMed Link: 23880798
Variant Present in the following documents:
  • Main text
View BVdb publication page



Catechol O-methyltransferase pharmacogenomics and selective serotonin reuptake inhibitor response.

The Pharmacogenomics Journal
Ji, Y Y; Biernacka, J J; Snyder, K K; Drews, M M; Pelleymounter, L L LL; Colby, C C; Wang, L L; Mrazek, D A DA; Weinshilboum, R M RM
Publication Date: 2012-02

Variant appearance in text: rs4646315
PubMed Link: 20877297
Variant Present in the following documents:
  • Main text
View BVdb publication page



Catechol O-methyltransferase pharmacogenomics: human liver genotype-phenotype correlation and proximal promoter studies.

Pharmacogenetics And Genomics
Zhang, Jianping J; Ji, Yuan Y; Moon, Irene I; Pelleymounter, Linda L LL; Ezequel Salavaggione, Oreste O; Wu, Yanhong Y; Jenkins, Gregory D GD; Batzler, Anthony J AJ; Schaid, Daniel J DJ; Weinshilboum, Richard M RM
Publication Date: 2009-08

Variant appearance in text: rs4646315
PubMed Link: 19641441
Variant Present in the following documents:
  • Main text
View BVdb publication page