CYP3A4 c.579C>T ;(p.I193=)

Variant ID: 7-99366068-G-A

NM_017460.5(CYP3A4):c.579C>T;(p.I193=)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review.

Frontiers In Genetics
Gomes, Julia do Amaral JDA; Olstad, Emilie Willoch EW; Kowalski, Thayne Woycinck TW; Gervin, Kristina K; Vianna, Fernanda Sales Luiz FSL; Schüler-Faccini, Lavínia L; Nordeng, Hedvig Marie Egeland HME
Publication Date: 2021

Variant appearance in text: rs4987159
PubMed Link: 33981330
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: CYP3A4: 579C>T; I193I
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: CYP3A4: 579C>T
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Polymorphism in Cytochrome P450 3A4 Is Ethnicity Related.

Frontiers In Genetics
Guttman, Yelena Y; Nudel, Adi A; Kerem, Zohar Z
Publication Date: 2019

Variant appearance in text: rs4987159
PubMed Link: 30941162
Variant Present in the following documents:
  • Table_2.xlsx, sheet 4
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: CYP3A4: 579C>T; I193I; rs4987159
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Characterization of the genetic variation present in CYP3A4 in three South African populations.

Frontiers In Genetics
Drögemöller, Britt B; Plummer, Marieth M; Korkie, Lundi L; Agenbag, Gloudi G; Dunaiski, Anke A; Niehaus, Dana D; Koen, Liezl L; Gebhardt, Stefan S; Schneider, Nicol N; Olckers, Antonel A; Wright, Galen G; Warnich, Louise L
Publication Date: 2013

Variant appearance in text: CYP3A4: I193I; rs4987159
PubMed Link: 23423246
Variant Present in the following documents:
  • Main text
  • fgene-04-00017.pdf
View BVdb publication page



The impact of drug metabolizing enzyme polymorphisms on outcomes after antenatal corticosteroid use.

American Journal Of Obstetrics And Gynecology
Haas, David M DM; Lehmann, Amalia S AS; Skaar, Todd T; Philips, Santosh S; McCormick, Catherine L CL; Beagle, Kyle K; Hebbring, Scott J SJ; Dantzer, Jessica J; Li, Lang L; Jung, Jeesun J
Publication Date: 2012-05

Variant appearance in text: rs4987159
PubMed Link: 22445700
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: rs4987159
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
View BVdb publication page