CYP7A1 c.*458G>A

Variant ID: 8-59403576-C-T

NM_000780.3(CYP7A1):c.*458G>A

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs8192879
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Association of CYP7A1 and CYP2E1 Polymorphisms with Type 2 Diabetes in the Chinese Han Populations.

Pharmacogenomics And Personalized Medicine
Zhang, Lihong L; Tang, Jingjing J; Wang, Yindi Y; Wang, Xiang X; Wang, Fang F
Publication Date: 2022

Variant appearance in text: rs8192879
PubMed Link: 36168322
Variant Present in the following documents:
  • Main text
  • pgpm-15-843.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ 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: rs8192879
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs8192879
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Interactions Between Regulatory Variants in CYP7A1 (Cholesterol 7α-Hydroxylase) Promoter and Enhancer Regions Regulate CYP7A1 Expression.

Circulation. Genomic And Precision Medicine
Wang, Danxin D; Hartmann, Katherine K; Seweryn, Michal M; Sadee, Wolfgang W
Publication Date: 2018-10

Variant appearance in text: rs8192879
PubMed Link: 30354296
Variant Present in the following documents:
  • Main text
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: rs8192879
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population.

The Pan African Medical Journal
Qrafli, Mounia M; Amar, Youssef Y; Bourkadi, Jamaleddine J; Ben Amor, Jouda J; Iraki, Ghali G; Bakri, Youssef Y; Amzazi, Saaîd S; Lahlou, Ouafae O; Seghrouchni, Fouad F; El Aouad, Rajae R; Sadki, Khalid K
Publication Date: 2014

Variant appearance in text: rs8192879
PubMed Link: 25360185
Variant Present in the following documents:
  • Main text
  • PAMJ-18-1.pdf
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: rs8192879
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Risk modification of colorectal adenoma by CYP7A1 polymorphisms and the role of bile acid metabolism in carcinogenesis.

Cancer Prevention Research (Philadelphia, Pa.)
Wertheim, Betsy C BC; Smith, Jeffrey W JW; Fang, Changming C; Alberts, David S DS; Lance, Peter P; Thompson, Patricia A PA
Publication Date: 2012-02

Variant appearance in text: rs8192879
PubMed Link: 22058145
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Klothoβ variant mediates protein stability and associates with colon transit in irritable bowel syndrome with diarrhea.

Gastroenterology
Wong, Banny S BS; Camilleri, Michael M; Carlson, Paula J PJ; Guicciardi, Maria E ME; Burton, Duane D; McKinzie, Sanna S; Rao, Archana S AS; Zinsmeister, Alan R AR; Gores, Gregory J GJ
Publication Date: 2011-06

Variant appearance in text: rs8192879
PubMed Link: 21396369
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chenodeoxycholate in females with irritable bowel syndrome-constipation: a pharmacodynamic and pharmacogenetic analysis.

Gastroenterology
Rao, Archana S AS; Wong, Banny S BS; Camilleri, Michael M; Odunsi-Shiyanbade, Suwebatu T ST; McKinzie, Sanna S; Ryks, Michael M; Burton, Duane D; Carlson, Paula P; Lamsam, Jesse J; Singh, Ravinder R; Zinsmeister, Alan R AR
Publication Date: 2010-11

Variant appearance in text: rs8192879
PubMed Link: 20691689
Variant Present in the following documents:
  • Main text
View BVdb publication page



Linkage disequilibrium blocks, haplotype structure, and htSNPs of human CYP7A1 gene.

Bmc Genetics
Nakamoto, Kaori K; Wang, Shuang S; Jenison, Robert D RD; Guo, Grace L GL; Klaassen, Curtis D CD; Wan, Yu-Jui Yvonne YJ; Zhong, Xiao-bo XB
Publication Date: 2006-05-18

Variant appearance in text: rs8192879
PubMed Link: 16709249
Variant Present in the following documents:
  • Main text
  • 1471-2156-7-29.pdf
View BVdb publication page