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.




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