RB1 c.733C>G ;(p.P245A)

Variant ID: 13-48936965-C-G

NM_000321.2(RB1):c.733C>G;(p.P245A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: RB1: P245A
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



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: RB1: P245A
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



MYC Deregulation in Primary Human Cancers.

Genes
Kalkat, Manpreet M; De Melo, Jason J; Hickman, Katherine Ashley KA; Lourenco, Corey C; Redel, Cornelia C; Resetca, Diana D; Tamachi, Aaliya A; Tu, William B WB; Penn, Linda Z LZ
Publication Date: 2017-05-25

Variant appearance in text: RB1: P245A
PubMed Link: 28587062
Variant Present in the following documents:
  • Main text
  • genes-08-00151.pdf
View BVdb publication page