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TERT c.2120A>T ;(p.Y707F)
Variant ID: 5-1279416-T-A
NM_198253.2(
TERT
):c.2120A>T;(p.Y707F)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Many Functions of Telomerase Components: Certainties, Doubts, and Inconsistencies.
International Journal Of Molecular Sciences
Udroiu, Ion I; Marinaccio, Jessica J; Sgura, Antonella A
Publication Date: 2022-12-02
Variant appearance in text: TERT: Y707F
PubMed Link:
36499514
Variant Present in the following documents:
Main text
ijms-23-15189.pdf
View BVdb publication page
The emerging role of telomerase reverse transcriptase in mitochondrial DNA metabolism.
Journal Of Nucleic Acids
Gordon, Donna M DM; Santos, Janine Hertzog JH
Publication Date: 2010-09-21
Variant appearance in text: TERT: Y707F
PubMed Link:
20936168
Variant Present in the following documents:
Main text
JNA2010-390791.pdf
View BVdb publication page
Nuclear protein tyrosine phosphatase Shp-2 is one important negative regulator of nuclear export of telomerase reverse transcriptase.
The Journal Of Biological Chemistry
Jakob, Sascha S; Schroeder, Peter P; Lukosz, Margarete M; Büchner, Nicole N; Spyridopoulos, Ioakim I; Altschmied, Joachim J; Haendeler, Judith J
Publication Date: 2008-11-28
Variant appearance in text: TERT: Y707F
PubMed Link:
18829466
Variant Present in the following documents:
Main text
View BVdb publication page
Hydrogen peroxide triggers nuclear export of telomerase reverse transcriptase via Src kinase family-dependent phosphorylation of tyrosine 707.
Molecular And Cellular Biology
Haendeler, Judith J; Hoffmann, Jörg J; Brandes, Ralf P RP; Zeiher, Andreas M AM; Dimmeler, Stefanie S
Publication Date: 2003-07
Variant appearance in text: TERT: Y707F
PubMed Link:
12808100
Variant Present in the following documents:
Main text
View BVdb publication page