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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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