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RB1 c.175G>A ;(p.A59T)
Variant ID: 13-48881453-G-A
NM_000321.2(
RB1
):c.175G>A;(p.A59T)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017
Variant appearance in text: RB1: A59T
PubMed Link:
29263839
Variant Present in the following documents:
41525_2017_32_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page
Oncogene Mutation Survey in MPNST Cell Lines Enhances the Dominant Role of Hyperactive Ras in NF1 Associated Pro-Survival and Malignancy.
Translational Oncogenomics
Sun, Daochun D; Tainsky, Michael A MA; Haddad, Ramsi R
Publication Date: 2012
Variant appearance in text: RB1: A59T
PubMed Link:
22346343
Variant Present in the following documents:
Main text
tog-5-2012-001.pdf
View BVdb publication page