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RB1 c.1814+2T>A
Variant ID: 13-49027249-T-A
NM_000321.2(
RB1
):c.1814+2T>A
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:
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Nature Communications
Cotto, Kelsy C KC; Feng, Yang-Yang YY; Ramu, Avinash A; Richters, Megan M; Freshour, Sharon L SL; Skidmore, Zachary L ZL; Xia, Huiming H; McMichael, Joshua F JF; Kunisaki, Jason J; Campbell, Katie M KM; Chen, Timothy Hung-Po TH; Rozycki, Emily B EB; Adkins, Douglas D; Devarakonda, Siddhartha S; Sankararaman, Sumithra S; Lin, Yiing Y; Chapman, William C WC; Maher, Christopher A CA; Arora, Vivek V; Dunn, Gavin P GP; Uppaluri, Ravindra R; Govindan, Ramaswamy R; Griffith, Obi L OL; Griffith, Malachi M
Publication Date: 2023-03-22
Variant appearance in text: RB1: 1814+2T>A
PubMed Link:
36949070
Variant Present in the following documents:
41467_2023_37266_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page
Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.
Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021
Variant appearance in text: RB1: 1814+2T>A
PubMed Link:
34887858
Variant Present in the following documents:
Table_3.xlsx, sheet 1
View BVdb publication page
Pan-cancer repository of validated natural and cryptic mRNA splicing mutations.
F1000Research
Shirley, Ben C BC; Mucaki, Eliseos J EJ; Rogan, Peter K PK
Publication Date: 2018
Variant appearance in text: RB1: 1814+2T>A
PubMed Link:
31275557
Variant Present in the following documents:
Main text
f1000research-7-22439.pdf
View BVdb publication page