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TERT c.2597_2598delinsAT ;(p.L866Y)
Variant ID: 5-1266635-CA-AT
NM_198253.2(
TERT
):c.2597_2598delinsAT;(p.L866Y)
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:
Differential mechanisms of tolerance to extreme environmental conditions in tardigrades.
Scientific Reports
Carrero, Dido D; Pérez-Silva, José G JG; Quesada, Víctor V; López-Otín, Carlos C
Publication Date: 2019-10-17
Variant appearance in text: TERT: L866Y
PubMed Link:
31624306
Variant Present in the following documents:
Main text
41598_2019_Article_51471.pdf
View BVdb publication page
A translocation-defective telomerase with low levels of activity and processivity stabilizes short telomeres and confers immortalization.
Molecular Biology Of The Cell
D'Souza, Yasmin Y; Chu, Tsz Wai TW; Autexier, Chantal C
Publication Date: 2013-05
Variant appearance in text: TERT: L866Y
PubMed Link:
23447707
Variant Present in the following documents:
Main text
1469.pdf
View BVdb publication page