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APOB c.875C>G ;(p.P292R)
Variant ID: 2-21257717-G-C
NM_000384.2(
APOB
):c.875C>G;(p.P292R)
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:
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.
Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10
Variant appearance in text: rs755277795
PubMed Link:
30076208
Variant Present in the following documents:
10.1194_P086710_jlr.P086710-4.xlsx, sheet 1
View BVdb publication page
SLC7A14 linked to autosomal recessive retinitis pigmentosa.
Nature Communications
Jin, Zi-Bing ZB; Huang, Xiu-Feng XF; Lv, Ji-Neng JN; Xiang, Lue L; Li, Dong-Qing DQ; Chen, Jiangfei J; Huang, Changjiang C; Wu, Jinyu J; Lu, Fan F; Qu, Jia J
Publication Date: 2014-03-27
Variant appearance in text: APOB: P292R
PubMed Link:
24670872
Variant Present in the following documents:
Main text
ncomms4517-s1.pdf
ncomms4517.pdf
View BVdb publication page