TERT c.572G>C ;(p.S191T)

Variant ID: 5-1294429-C-G

NM_198253.2(TERT):c.572G>C;(p.S191T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: S191T
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: S191T; rs11952056
PubMed Link: 21258621
Variant Present in the following documents:
  • Main text
View BVdb publication page