BARD1 c.452G>A ;(p.S151N)

Variant ID: 2-215646146-C-T

NM_000465.2(BARD1):c.452G>A;(p.S151N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: BARD1: S151N
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: BARD1: 364+10875G>A; S151N
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.

Plos Genetics
Adamovich, Aleksandra I AI; Banerjee, Tapahsama T; Wingo, Margaret M; Duncan, Kathryn K; Ning, Jie J; Martins Rodrigues, Fernanda F; Huang, Kuan-Lin KL; Lee, Cindy C; Chen, Feng F; Ding, Li L; Parvin, Jeffrey D JD
Publication Date: 2019-03

Variant appearance in text: BARD1: S151N
PubMed Link: 30925164
Variant Present in the following documents:
  • pgen.1008049.s001.xlsx, sheet 1
View BVdb publication page



Dualistic Role of BARD1 in Cancer.

Genes
Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M
Publication Date: 2017-12-08

Variant appearance in text: BARD1: S151N
PubMed Link: 29292755
Variant Present in the following documents:
  • Main text
View BVdb publication page