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RB1 c.1236A>C ;(p.K412N)
Variant ID: 13-48951074-A-C
NM_000321.2(
RB1
):c.1236A>C;(p.K412N)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: K412N
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page
Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.
Plos One
Olivier, Magali M; Bouaoun, Liacine L; Villar, Stephanie S; Robitaille, Alexis A; Cahais, Vincent V; Heguy, Adriana A; Byrnes, Graham G; Le Calvez-Kelm, Florence F; Torres-Mejía, Gabriela G; Alvarado-Cabrero, Isabel I; Imani-Razavi, Fazlollah Shahram FS; Inés Sánchez, Gloria G; Jaramillo, Roberto R; Porras, Carolina C; Rodriguez, Ana Cecilia AC; Garmendia, Maria Luisa ML; Soto, José Luis JL; Romieu, Isabelle I; Porter, Peggy P; Guenthoer, Jamie J; Rinaldi, Sabina S; ,
Publication Date: 2019
Variant appearance in text: RB1: K412N
PubMed Link:
30653559
Variant Present in the following documents:
pone.0210372.s001.xlsx, sheet 3
View BVdb publication page
Somatic alterations in brain tumors.
Oncology Reports
Barnholtz-Sloan, Jill J; Sloan, Andrew E AE; Land, Susan S; Kupsky, William W; Monteiro, Alvaro N A AN
Publication Date: 2008-07
Variant appearance in text: RB1: K412N
PubMed Link:
18575738
Variant Present in the following documents:
Main text
View BVdb publication page