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TERT c.2844C>A ;(p.S948R)
Variant ID: 5-1260715-G-T
NM_198253.2(
TERT
):c.2844C>A;(p.S948R)
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:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs34062885
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Many disease-associated variants of hTERT retain high telomerase enzymatic activity.
Nucleic Acids Research
Zaug, Arthur J AJ; Crary, Sharon M SM; Jesse Fioravanti, Matthew M; Campbell, Kristina K; Cech, Thomas R TR
Publication Date: 2013-10
Variant appearance in text: TERT: S948R
PubMed Link:
23901009
Variant Present in the following documents:
Main text
supp_gkt653_nar-01604-r-2013-File007.pdf
gkt653.pdf
View BVdb publication page
Genetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies.
Current Pharmacogenomics And Personalized Medicine
Trudeau, M A MA; Wong, J M Y JM
Publication Date: 2010-03-01
Variant appearance in text: TERT: S948R; rs34062885
PubMed Link:
21258621
Variant Present in the following documents:
Main text
View BVdb publication page