RB1 c.1232C>A ;(p.P411Q)

Variant ID: 13-48951070-C-A

NM_000321.2(RB1):c.1232C>A;(p.P411Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma.

Nature Communications
Coy, Shannon S; Wang, Shu S; Stopka, Sylwia A SA; Lin, Jia-Ren JR; Yapp, Clarence C; Ritch, Cecily C CC; Salhi, Lisa L; Baker, Gregory J GJ; Rashid, Rumana R; Baquer, Gerard G; Regan, Michael M; Khadka, Prasidda P; Cole, Kristina A KA; Hwang, Jaeho J; Wen, Patrick Y PY; Bandopadhayay, Pratiti P; Santi, Mariarita M; De Raedt, Thomas T; Ligon, Keith L KL; Agar, Nathalie Y R NYR; Sorger, Peter K PK; Touat, Mehdi M; Santagata, Sandro S
Publication Date: 2022-08-16

Variant appearance in text: RB1: P411Q
PubMed Link: 35973991
Variant Present in the following documents:
  • 41467_2022_32430_MOESM17_ESM.xlsx, sheet 31
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: RB1: 1232C>A; Pro411Gln
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page