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NOTCH1 c.4730T>A ;(p.V1577E)
Variant ID: 9-139399413-A-T
NM_017617.3(
NOTCH1
):c.4730T>A;(p.V1577E)
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:
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05
Variant appearance in text: NOTCH1: 4730T>A; V1577E
PubMed Link:
33704917
Variant Present in the following documents:
TCA-12-1271-s003.xls, sheet 1
View BVdb publication page
Structure of the Notch1-negative regulatory region: implications for normal activation and pathogenic signaling in T-ALL.
Blood
Gordon, Wendy R WR; Roy, Monideepa M; Vardar-Ulu, Didem D; Garfinkel, Megan M; Mansour, Marc R MR; Aster, Jon C JC; Blacklow, Stephen C SC
Publication Date: 2009-04-30
Variant appearance in text: NOTCH1: V1577E
PubMed Link:
19075186
Variant Present in the following documents:
Main text
View BVdb publication page
Leukemia-associated mutations within the NOTCH1 heterodimerization domain fall into at least two distinct mechanistic classes.
Molecular And Cellular Biology
Malecki, Michael J MJ; Sanchez-Irizarry, Cheryll C; Mitchell, Jennifer L JL; Histen, Gavin G; Xu, Mina L ML; Aster, Jon C JC; Blacklow, Stephen C SC
Publication Date: 2006-06
Variant appearance in text: NOTCH1: V1577E
PubMed Link:
16738328
Variant Present in the following documents:
Main text
View BVdb publication page