TERT c.2045G>A ;(p.G682D)

Variant ID: 5-1279491-C-T

NM_198253.2(TERT):c.2045G>A;(p.G682D)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TERT: 2045G>A; Gly682Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: TERT: G682D
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TERT: G682D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



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: G682D
PubMed Link: 23901009
Variant Present in the following documents:
  • Main text
  • gkt653.pdf
  • supp_gkt653_nar-01604-r-2013-File007.pdf
View BVdb publication page



Medical genetics and epigenetics of telomerase.

Journal Of Cellular And Molecular Medicine
Koziel, Jillian E JE; Fox, Melanie J MJ; Steding, Catherine E CE; Sprouse, Alyssa A AA; Herbert, Brittney-Shea BS
Publication Date: 2011-03

Variant appearance in text: TERT: G682D
PubMed Link: 21323862
Variant Present in the following documents:
  • Main text
  • jcmm0015-0457.pdf
View BVdb publication page



A novel motif in telomerase reverse transcriptase regulates telomere repeat addition rate and processivity.

Nucleic Acids Research
Xie, Mingyi M; Podlevsky, Joshua D JD; Qi, Xiaodong X; Bley, Christopher J CJ; Chen, Julian J-L JJ
Publication Date: 2010-04

Variant appearance in text: TERT: G682D
PubMed Link: 20044353
Variant Present in the following documents:
  • Main text
  • gkp1198.pdf
View BVdb publication page