TERT c.208T>G ;(p.S70A)

Variant ID: 5-1294897-A-C

NM_198253.2(TERT):c.208T>G;(p.S70A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The N-terminus of hTERT contains a DNA-binding domain and is required for telomerase activity and cellular immortalization.

Nucleic Acids Research
Sealey, David C F DC; Zheng, Le L; Taboski, Michael A S MA; Cruickshank, Jennifer J; Ikura, Mitsuhiko M; Harrington, Lea A LA
Publication Date: 2010-04

Variant appearance in text: TERT: S70A
PubMed Link: 20034955
Variant Present in the following documents:
  • Main text
  • gkp1160.pdf
View BVdb publication page