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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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