Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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