CYP11A1 c.47G>A ;(p.C16Y)

Variant ID: 15-74659880-C-T

NM_000781.2(CYP11A1):c.47G>A;(p.C16Y)

This variant was identified in 6 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: CYP11A1: 47G>A; C16Y; rs1130841
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: rs1130841
PubMed Link: 32489320
Variant Present in the following documents:
  • 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



The genetic landscape of benign thyroid nodules revealed by whole exome and transcriptome sequencing.

Nature Communications
Ye, Lei L; Zhou, Xiaoyi X; Huang, Fengjiao F; Wang, Weixi W; Qi, Yicheng Y; Xu, Heng H; Yang, Shu S; Shen, Liyun L; Fei, Xiaochun X; Xie, Jing J; Cao, Min M; Zhou, Yulin Y; Zhu, Wei W; Wang, Shu S; Ning, Guang G; Wang, Weiqing W
Publication Date: 2017-06-05

Variant appearance in text: CYP11A1: C16Y
PubMed Link: 28580939
Variant Present in the following documents:
  • ncomms15533-s4.xlsx, sheet 1
View BVdb publication page



1,25D3 prevents CD8(+)Tc2 skewing and asthma development through VDR binding changes to the Cyp11a1 promoter.

Nature Communications
Schedel, Michaela M; Jia, Yi Y; Michel, Sven S; Takeda, Katsuyuki K; Domenico, Joanne J; Joetham, Anthony A; Ning, Fangkun F; Strand, Matthew M; Han, Junyan J; Wang, Meiqin M; Lucas, Joseph J JJ; Vogelberg, Christian C; Kabesch, Michael M; O'Connor, Brian P BP; Gelfand, Erwin W EW
Publication Date: 2016-01-11

Variant appearance in text: rs1130841
PubMed Link: 26750596
Variant Present in the following documents:
  • Main text
  • ncomms10213.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: rs1130841
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: rs1130841
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page