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.




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