RB1 c.2186A>G ;(p.K729R)

Variant ID: 13-49037946-A-G

NM_000321.2(RB1):c.2186A>G;(p.K729R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: RB1: K729R
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Case Report: Triple Primary Malignant Tumors of the Esophagus, Stomach, and Colon in a Patient With Genetic Analysis.

Frontiers In Genetics
Zhan, Xiaoli X; He, Lingzhe L; Song, Kai K; Cao, Shuliang S; Meng, Erhong E; Wang, Yuedong Y
Publication Date: 2021

Variant appearance in text: RB1: 2186A>G; K729R
PubMed Link: 34306021
Variant Present in the following documents:
  • Main text
  • fgene-12-676497.pdf
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: K729R
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page