RB1 c.94G>A ;(p.D32N)

Variant ID: 13-48878142-G-A

NM_000321.2(RB1):c.94G>A;(p.D32N)

This variant was identified in 4 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: D32N
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Integrated digital pathology and transcriptome analysis identifies molecular mediators of T-cell exclusion in ovarian cancer.

Nature Communications
Desbois, Mélanie M; Udyavar, Akshata R AR; Ryner, Lisa L; Kozlowski, Cleopatra C; Guan, Yinghui Y; Dürrbaum, Milena M; Lu, Shan S; Fortin, Jean-Philippe JP; Koeppen, Hartmut H; Ziai, James J; Chang, Ching-Wei CW; Keerthivasan, Shilpa S; Plante, Marie M; Bourgon, Richard R; Bais, Carlos C; Hegde, Priti P; Daemen, Anneleen A; Turley, Shannon S; Wang, Yulei Y
Publication Date: 2020-11-04

Variant appearance in text: RB1: Asp32Asn
PubMed Link: 33149148
Variant Present in the following documents:
  • 41467_2020_19408_MOESM8_ESM.xlsx, sheet 10
View BVdb publication page



Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis.

Nature Communications
Letouzé, Eric E; Shinde, Jayendra J; Renault, Victor V; Couchy, Gabrielle G; Blanc, Jean-Frédéric JF; Tubacher, Emmanuel E; Bayard, Quentin Q; Bacq, Delphine D; Meyer, Vincent V; Semhoun, Jérémy J; Bioulac-Sage, Paulette P; Prévôt, Sophie S; Azoulay, Daniel D; Paradis, Valérie V; Imbeaud, Sandrine S; Deleuze, Jean-François JF; Zucman-Rossi, Jessica J
Publication Date: 2017-11-03

Variant appearance in text: RB1: D32N
PubMed Link: 29101368
Variant Present in the following documents:
  • 41467_2017_1358_MOESM1_ESM.pdf
View BVdb publication page



Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.

Bmc Cancer
Tone, Alicia A AA; McConechy, Melissa K MK; Yang, Winnie W; Ding, Jiarui J; Yip, Stephen S; Kong, Esther E; Wong, Kwong-Kwok KK; Gershenson, David M DM; Mackay, Helen H; Shah, Sohrab S; Gilks, Blake B; Tinker, Anna V AV; Clarke, Blaise B; McAlpine, Jessica N JN; Huntsman, David D
Publication Date: 2014-12-18

Variant appearance in text: RB1: D32N
PubMed Link: 25523272
Variant Present in the following documents:
  • 12885_2014_5198_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page