TERT c.814G>A ;(p.V272M)

Variant ID: 5-1294187-C-T

NM_198253.2(TERT):c.814G>A;(p.V272M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


POT1-TPP1 telomere length regulation and disease.

Computational And Structural Biotechnology Journal
Aramburu, Tomas T; Plucinsky, Sarah S; Skordalakes, Emmanuel E
Publication Date: 2020

Variant appearance in text: TERT: V272M
PubMed Link: 32774788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Cells
Amir, Mohd M; Khan, Parvez P; Queen, Aarfa A; Dohare, Ravins R; Alajmi, Mohamed F MF; Hussain, Afzal A; Islam, Asimul A; Ahmad, Faizan F; Hassan, Imtaiyaz I
Publication Date: 2020-02-04

Variant appearance in text: TERT: V272M
PubMed Link: 32033110
Variant Present in the following documents:
  • Main text
  • cells-09-00359.pdf
View BVdb publication page