CYP7A1 c.1039G>T ;(p.D347Y)

Variant ID: 8-59407065-C-A

NM_000780.3(CYP7A1):c.1039G>T;(p.D347Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: CYP7A1: D347Y
PubMed Link: 33519890
Variant Present in the following documents:
  • fgene-11-572045.pdf
View BVdb publication page



Peroxisome Proliferator-activated receptor γ activation by ligands and dephosphorylation induces proprotein convertase subtilisin kexin type 9 and low density lipoprotein receptor expression.

The Journal Of Biological Chemistry
Duan, Yajun Y; Chen, Yuanli Y; Hu, Wenquan W; Li, Xiaoju X; Yang, Xiaoxiao X; Zhou, Xin X; Yin, Zhinan Z; Kong, Deling D; Yao, Zhi Z; Hajjar, David P DP; Liu, Lin L; Liu, Qiang Q; Han, Jihong J
Publication Date: 2012-07-06

Variant appearance in text: CYP7A1: D347Y
PubMed Link: 22593575
Variant Present in the following documents:
  • Main text
View BVdb publication page