CYP1B1 c.182G>C ;(p.G61A)

Variant ID: 2-38302350-C-G

NM_000104.3(CYP1B1):c.182G>C;(p.G61A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.

Peerj
Shahid, Muhammad M; Azfaralariff, Ahmad A; Tufail, Muhammad M; Hussain Khan, Nazeer N; Abdulkareem Najm, Ahmed A; Firasat, Sabika S; Zubair, Muhammad M; Fazry, Shazrul S; Law, Douglas D
Publication Date: 2022

Variant appearance in text: rs28936700
PubMed Link: 36518267
Variant Present in the following documents:
  • peerj-10-14132-s001.xlsx, sheet 7
  • peerj-10-14132-s001.xlsx, sheet 3
View BVdb publication page



The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine
Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG
Publication Date: 2022-01-19

Variant appearance in text: rs28936700
PubMed Link: 35046417
Variant Present in the following documents:
  • Main text
View BVdb publication page



The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine
Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG
Publication Date: 2022-01-19

Variant appearance in text: rs28936700
PubMed Link: 35046417
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variation in 100 relevant pharmacogenes among emiratis with insights from understudied populations.

Scientific Reports
Al-Mahayri, Zeina N ZN; Patrinos, George P GP; Wattanapokayakit, Sukanya S; Iemwimangsa, Nareenart N; Fukunaga, Koya K; Mushiroda, Taisei T; Chantratita, Wasun W; Ali, Bassam R BR
Publication Date: 2020-12-04

Variant appearance in text: rs28936700
PubMed Link: 33277594
Variant Present in the following documents:
  • 41598_2020_78231_MOESM1_ESM.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: rs28936700
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: rs28936700
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page