CYP21A2 c.1143G>C ;(p.E381D)

Variant ID: 6-32008469-G-C

NM_000500.7(CYP21A2):c.1143G>C;(p.E381D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: rs72552756
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

European Journal Of Human Genetics : Ejhg
Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W
Publication Date: 2020-10

Variant appearance in text: CYP21A2: 1143G>C; Glu381Asp; rs72552756
PubMed Link: 32616876
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_653.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: rs72552756
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: rs72552756
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page