TERT c.2606A>C ;(p.D869A)

Variant ID: 5-1266627-T-G

NM_198253.2(TERT):c.2606A>C;(p.D869A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Alternative Splicing of Human Telomerase Reverse Transcriptase (hTERT) and Its Implications in Physiological and Pathological Processes.

Biomedicines
Plyasova, Anna A AA; Zhdanov, Dmitry D DD
Publication Date: 2021-05-09

Variant appearance in text: TERT: Asp869Ala
PubMed Link: 34065134
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00526.pdf
View BVdb publication page



Telomerase promotes formation of a telomere protective complex in cancer cells.

Science Advances
Perera, Omesha N ON; Sobinoff, Alexander P AP; Teber, Erdahl T ET; Harman, Ashley A; Maritz, Michelle F MF; Yang, Sile F SF; Pickett, Hilda A HA; Cesare, Anthony J AJ; Arthur, Jonathan W JW; MacKenzie, Karen L KL; Bryan, Tracy M TM
Publication Date: 2019-10

Variant appearance in text: TERT: D869A
PubMed Link: 31616780
Variant Present in the following documents:
  • aav4409_SM.pdf
View BVdb publication page



Structural, functional, and stability change predictions in human telomerase upon specific point mutations.

Scientific Reports
Kalathiya, U U; Padariya, M M; Baginski, M M
Publication Date: 2019-06-18

Variant appearance in text: TERT: D869A
PubMed Link: 31213647
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_45206.pdf
  • 41598_2019_45206_MOESM1_ESM.pdf
View BVdb publication page



Molecular adaptation of telomere associated genes in mammals.

Bmc Evolutionary Biology
Morgan, Claire C CC; Mc Cartney, Ann M AM; Donoghue, Mark T A MT; Loughran, Noeleen B NB; Spillane, Charles C; Teeling, Emma C EC; O'Connell, Mary J MJ
Publication Date: 2013-11-15

Variant appearance in text: TERT: D869A
PubMed Link: 24237966
Variant Present in the following documents:
  • Main text
  • 1471-2148-13-251.pdf
View BVdb publication page



Long telomeres bypass the requirement for telomere maintenance in human tumorigenesis.

Cell Reports
Taboski, Michael A S MA; Sealey, David C F DC; Dorrens, Jennifer J; Tayade, Chandrakant C; Betts, Dean H DH; Harrington, Lea L
Publication Date: 2012-02-23

Variant appearance in text: TERT: D869A
PubMed Link: 22832159
Variant Present in the following documents:
  • nihms346221.pdf
View BVdb publication page



Functional multimerization of the human telomerase reverse transcriptase.

Molecular And Cellular Biology
Beattie, T L TL; Zhou, W W; Robinson, M O MO; Harrington, L L
Publication Date: 2001-09

Variant appearance in text: TERT: D869A
PubMed Link: 11509658
Variant Present in the following documents:
  • Main text
View BVdb publication page