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HR c.143C>T ;(p.P48L)
Variant ID: 8-21986541-G-A
NM_005144.4(
HR
):c.143C>T;(p.P48L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.
Genome Medicine
Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R
Publication Date: 2020-07-09
Variant appearance in text: HR: 143C>T; Pro48Leu
PubMed Link:
32646514
Variant Present in the following documents:
13073_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.
Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07
Variant appearance in text: HR: 143C>T
PubMed Link:
32639949
Variant Present in the following documents:
aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page
Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components.
Journal Of Clinical Medicine
Turner, Richard Myles RM; Pirmohamed, Munir M
Publication Date: 2019-12-20
Variant appearance in text: HR: P48L
PubMed Link:
31861911
Variant Present in the following documents:
Main text
jcm-09-00022.pdf
View BVdb publication page