RB1 c.1846A>G ;(p.K616E)

Variant ID: 13-49030371-A-G

NM_000321.2(RB1):c.1846A>G;(p.K616E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 1846A>G
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: RB1: K616E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
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: K616E
PubMed Link: 25928201
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1340.pdf
View BVdb publication page