Bibliome.ai browser hg19
Search
About
Stats
FAQ
PC c.739G>T ;(p.V247L)
Variant ID: 11-66638258-C-A
NM_001040716.1(
PC
):c.739G>T;(p.V247L)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: PC: V247L
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page
Hexachlorobenzene Monooxygenase Substrate Selectivity and Catalysis: Structural and Biochemical Insights.
Applied And Environmental Microbiology
Guo, Yuan Y; Li, De-Feng DF; Ji, Huining H; Zheng, Jianting J; Zhou, Ning-Yi NY
Publication Date: 2020-12-17
Variant appearance in text: PCB: V247L
PubMed Link:
33097503
Variant Present in the following documents:
Main text
View BVdb publication page
New Biomarkers for Atherothrombosis in Antiphospholipid Syndrome: Genomics and Epigenetics Approaches.
Frontiers In Immunology
Lopez-Pedrera, Chary C; Barbarroja, Nuria N; Patiño-Trives, Alejandra Mª AM; Collantes, Eduardo E; Aguirre, Mª Angeles MA; Perez-Sanchez, Carlos C
Publication Date: 2019
Variant appearance in text: PC: Val247Leu
PubMed Link:
31040845
Variant Present in the following documents:
Main text
fimmu-10-00764.pdf
View BVdb publication page
Pathophysiology of the antiphospholipid antibody syndrome.
Auto- Immunity Highlights
Willis, Rohan R; Pierangeli, Silvia S SS
Publication Date: 2011-11
Variant appearance in text: PC: val247leu
PubMed Link:
26000118
Variant Present in the following documents:
13317_2011_Article_17.pdf
View BVdb publication page