CYP1B1 c.1063C>T ;(p.R355*)

Variant ID: 2-38298434-G-A

NM_000104.3(CYP1B1):c.1063C>T;(p.R355*)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma.

Pakistan Journal Of Medical Sciences
Zahid, Tazeen T; Khan, Muhammad Umer MU; Zulfiqar, Aymn A; Jawad, Fatima F; Saleem, Anosh A; Khan, Ahmad Raza AR
Publication Date: 2023

Variant appearance in text: CYP1B1: R355X
PubMed Link: 36950438
Variant Present in the following documents:
  • Main text
  • PJMS-39-409.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMETâ„¢ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: CYP1B1: R355X; rs72549381
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Updates on the molecular genetics of primary congenital glaucoma (Review).

Experimental And Therapeutic Medicine
Ling, Chen C; Zhang, Dingding D; Zhang, Jing J; Sun, Huanxin H; Du, Qiu Q; Li, Xuefei X
Publication Date: 2020-08

Variant appearance in text: CYP1B1: Arg355*
PubMed Link: 32742340
Variant Present in the following documents:
  • etm-20-02-0968.pdf
View BVdb publication page



Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
Publication Date: 2021-01

Variant appearance in text: CYP1B1: R355X; rs72549381
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld-Rieger syndrome patient with small cornea: a case report.

Bmc Ophthalmology
Ma, Yajuan Y; Wu, Xingdi X; Ni, Shuang S; Chen, Xiang X; He, Suhong S; Xu, Wen W
Publication Date: 2020-04-15

Variant appearance in text: CYP1B1: 1063C>T
PubMed Link: 32295643
Variant Present in the following documents:
  • 12886_2020_Article_1406.pdf
View BVdb publication page



Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

International Journal Of Ophthalmology
Waryah, Yar Muhammad YM; Iqbal, Muhammad M; Sheikh, Shakeel Ahmed SA; Baig, Muhammad Azhar MA; Narsani, Ashok Kumar AK; Atif, Muhammad M; Bhinder, Munir Ahmad MA; Ur Rahman, Attiq A; Memon, Azam Iqbal AI; Pirzado, Muhammad Suleman MS; Waryah, Ali Muhammad AM
Publication Date: 2019

Variant appearance in text: CYP1B1: 1063C>T; R355*
PubMed Link: 30662834
Variant Present in the following documents:
  • Main text
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: rs72549381
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.

Journal Of Pediatric Genetics
Chouiter, Leila L; Nadifi, Sellama S
Publication Date: 2017-12

Variant appearance in text: CYP1B1: 1063C>T
PubMed Link: 29142762
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Journal Of Current Glaucoma Practice
Faiq, Muneeb M; Sharma, Reetika R; Dada, Rima R; Mohanty, Kuldeep K; Saluja, Daman D; Dada, Tanuj T
Publication Date: 2013

Variant appearance in text: CYP1B1: R355X
PubMed Link: 26997785
Variant Present in the following documents:
  • Main text
  • jocgp-07-066.pdf
View BVdb publication page



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: rs72549381
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



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: rs72549381
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

American Journal Of Ophthalmology
Lim, Sing-Hui SH; Tran-Viet, Khanh-Nhat KN; Yanovitch, Tammy L TL; Freedman, Sharon F SF; Klemm, Thomas T; Call, Whitney W; Powell, Caldwell C; Ravichandran, Ajay A; Metlapally, Ravikanth R; Nading, Erica B EB; Rozen, Steve S; Young, Terri L TL
Publication Date: 2013-03

Variant appearance in text: rs72549381
PubMed Link: 23218701
Variant Present in the following documents:
  • Main text
View BVdb publication page



Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

Molecular Vision
Abu-Amero, Khaled K KK; Osman, Essam A EA; Mousa, Ahmed A; Wheeler, Joshua J; Whigham, Benjamin B; Allingham, R Rand RR; Hauser, Michael A MA; Al-Obeidan, Saleh A SA
Publication Date: 2011

Variant appearance in text: CYP1B1: R355X
PubMed Link: 22128238
Variant Present in the following documents:
  • Main text
  • mv-v17-2911.pdf
View BVdb publication page



MYOC and FOXC1 gene analysis in primary congenital glaucoma.

Molecular Vision
Tanwar, Mukesh M; Kumar, Manoj M; Dada, Tanuj T; Sihota, Ramanjit R; Dada, Rima R
Publication Date: 2010-10-08

Variant appearance in text: CYP1B1: R355X
PubMed Link: 21031026
Variant Present in the following documents:
  • Main text
View BVdb publication page



Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.

Case Reports In Medicine
Tanwar, Mukesh M; Dada, Tanuj T; Dada, Rima R
Publication Date: 2010

Variant appearance in text: CYP1B1: 1063C>T
PubMed Link: 20827438
Variant Present in the following documents:
  • Main text
  • CRM2010-212656.pdf
View BVdb publication page



Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

Molecular Vision
Tanwar, Mukesh M; Dada, Tanuj T; Sihota, Ramanjit R; Dada, Rima R
Publication Date: 2009-12-30

Variant appearance in text: CYP1B1: 1063C>T; R355X
PubMed Link: 20057908
Variant Present in the following documents:
  • Main text
  • mv-v15-2926.pdf
View BVdb publication page