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NOTCH1 c.739C>T ;(p.P247S)
Variant ID: 9-139417305-G-A
NM_017617.3(
NOTCH1
):c.739C>T;(p.P247S)
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:
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01
Variant appearance in text: NOTCH1: P247S
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page
Understanding gene sequence variation in the context of transcription regulation in yeast.
Plos Genetics
Gat-Viks, Irit I; Meller, Renana R; Kupiec, Martin M; Shamir, Ron R
Publication Date: 2010-01
Variant appearance in text: TAN1: P247S
PubMed Link:
20066030
Variant Present in the following documents:
Main text
pgen.1000800.pdf
View BVdb publication page