RB1 c.2241G>T ;(p.E747D)

Variant ID: 13-49039163-G-T

NM_000321.2(RB1):c.2241G>T;(p.E747D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: RB1: E747D; rs750057315
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.

Bmc Cancer
Vidal, Amanda Ferreira AF; Ferraz, Rafaella Sousa RS; El-Husny, Antonette A; Silva, Caio Santos CS; Vinasco-Sandoval, Tatiana T; Magalhães, Leandro L; Raiol-Moraes, Milene M; Barra, Williams Fernandes WF; Pereira, Cynthia Lara Brito Lins CLBL; de Assumpção, Paulo Pimentel PP; de Brito, Leonardo Miranda LM; Vialle, Ricardo Assunção RA; Santos, Sidney S; Ribeiro-Dos-Santos, Ândrea Â; Ribeiro-Dos-Santos, André M AM
Publication Date: 2021-04-07

Variant appearance in text: RB1: 2241G>T; Glu747Asp
PubMed Link: 33827469
Variant Present in the following documents:
  • 12885_2021_8089_MOESM2_ESM.xlsx, sheet 1
  • 12885_2021_8089_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: RB1: E747D
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: RB1: 2241G>T; Glu747Asp
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
View BVdb publication page