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NR0B2 c.415C>A ;(p.P139T)
Variant ID: 1-27240017-G-T
NM_021969.2(
NR0B2
):c.415C>A;(p.P139T)
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:
A pleiotropic role for the orphan nuclear receptor small heterodimer partner in lipid homeostasis and metabolic pathways.
Journal Of Lipids
Garruti, Gabriella G; Wang, Helen H HH; Bonfrate, Leonilde L; de Bari, Ornella O; Wang, David Q-H DQ; Portincasa, Piero P
Publication Date: 2012
Variant appearance in text: SHP: 415C>A
PubMed Link:
22577560
Variant Present in the following documents:
Main text
JL2012-304292.pdf
View BVdb publication page
Role of nuclear receptor SHP in metabolism and cancer.
Biochimica Et Biophysica Acta
Zhang, Yuxia Y; Hagedorn, Curt H CH; Wang, Li L
Publication Date: 2011-08
Variant appearance in text: SHP: 415C>A
PubMed Link:
20970497
Variant Present in the following documents:
Main text
View BVdb publication page