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NOTCH1 c.5351G>A ;(p.R1784Q)
Variant ID: 9-139396757-C-T
NM_017617.3(
NOTCH1
):c.5351G>A;(p.R1784Q)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutation Analysis of Second Primary Tumors in Oral Cancer in Taiwanese Patients through Next-Generation Sequencing.
Diagnostics (Basel, Switzerland)
Liu, Ting-Yuan TY; Lee, Chien-Chin CC; Chen, Yu-Chia YC; Chang, Ya-Sian YS; Huang, Hsi-Yuan HY; Lee, Ya-Ting YT; Yen, Ju-Chen JC; Chao, Dysan D; Chang, Jan-Gowth JG
Publication Date: 2022-04-11
Variant appearance in text: NOTCH1: 5351G>A
PubMed Link:
35453999
Variant Present in the following documents:
diagnostics-12-00951.pdf
View BVdb publication page
Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.
Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08
Variant appearance in text: NOTCH1: R1784Q
PubMed Link:
29296220
Variant Present in the following documents:
oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page