CYP2C9 c.431G>A ;(p.R144H)

Variant ID: 10-96702048-G-A

NM_000771.3(CYP2C9):c.431G>A;(p.R144H)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

The Pharmacogenomics Journal
Zhou, Yitian Y; Lauschke, Volker M VM
Publication Date: 2022-12

Variant appearance in text: CYP2C9: 431G>A; Arg144His; rs141489852
PubMed Link: 36068297
Variant Present in the following documents:
  • 41397_2022_288_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Plos One
Goljan, Ewa E; Abouelhoda, Mohammed M; ElKalioby, Mohamed M MM; Jabaan, Amjad A; Alghithi, Nada N; Meyer, Brian F BF; Monies, Dorota D
Publication Date: 2022

Variant appearance in text: CYP2C9: R144H
PubMed Link: 35089958
Variant Present in the following documents:
  • pone.0263137.pdf
View BVdb publication page



CYP2C9 Variations and Their Pharmacogenetic Implications Among Diverse South Asian Populations.

Pharmacogenomics And Personalized Medicine
Nizamuddin, Sheikh S; Dubey, Shivendra S; Singh, Sakshi S; Sharma, Saurav S; Machha, Pratheusa P; Thangaraj, Kumarasamy K
Publication Date: 2021

Variant appearance in text: CYP2C9: Arg144His; rs141489852
PubMed Link: 33536773
Variant Present in the following documents:
  • Main text
  • pgpm-14-135.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CYP2C9: R144H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.

Clinical And Translational Science
Zhang, Lingxin L; Sarangi, Vivekananda V; Moon, Irene I; Yu, Jia J; Liu, Duan D; Devarajan, Sandhya S; Reid, Joel M JM; Kalari, Krishna R KR; Wang, Liewei L; Weinshilboum, Richard R
Publication Date: 2020-07

Variant appearance in text: CYP2C9: 431G>A; Arg144His; rs141489852
PubMed Link: 32004414
Variant Present in the following documents:
  • Main text
  • CTS-13-727.pdf
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: rs141489852
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Analysis of Genetic Variation in CYP450 Genes for Clinical Implementation.

Plos One
Goh, Liuh Ling LL; Lim, Chia Wei CW; Sim, Wey Cheng WC; Toh, Li Xian LX; Leong, Khai Pang KP
Publication Date: 2017

Variant appearance in text: CYP2C9: R144H
PubMed Link: 28046094
Variant Present in the following documents:
  • pone.0169233.pdf
View BVdb publication page



Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.

Human Genomics
Matimba, Alice A; Del-Favero, Jurgen J; Van Broeckhoven, Christine C; Masimirembwa, Collen C
Publication Date: 2009-01

Variant appearance in text: CYP2C9: R144H
PubMed Link: 19164093
Variant Present in the following documents:
  • 1479-7364-3-2-169.pdf
View BVdb publication page