RB1 c.521T>A ;(p.L174*)

Variant ID: 13-48921981-T-A

NM_000321.2(RB1):c.521T>A;(p.L174*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: RB1: 521T>A; L174*
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: RB1: 521T>A; L174*
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: RB1: 521T>A; L174*
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

Bmc Cancer
Devarajan, Bharanidharan B; Prakash, Logambiga L; Kannan, Thirumalai Raj TR; Abraham, Aloysius A AA; Kim, Usha U; Muthukkaruppan, Veerappan V; Vanniarajan, Ayyasamy A
Publication Date: 2015-04-28

Variant appearance in text: RB1: L174X
PubMed Link: 25928201
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1340.pdf
View BVdb publication page