TERT c.112C>T ;(p.L38=)

Variant ID: 5-1294993-G-A

NM_198253.2(TERT):c.112C>T;(p.L38=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: TERT: L38L
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TERT: L38L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Pleural Effusion Aspirate for use in 3D Lung Cancer Modeling and Chemotherapy Screening.

Acs Biomaterials Science & Engineering
Mazzocchi, Andrea A; Devarasetty, Mahesh M; Herberg, Samuel S; Petty, William J WJ; Marini, Frank F; Miller, Lance L; Kucera, Gregory G; Dukes, David K DK; Ruiz, Jimmy J; Skardal, Aleksander A; Soker, Shay S
Publication Date: 2019-04-08

Variant appearance in text: TERT: L38L
PubMed Link: 31723594
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.

Haematologica
Marrone, Anna A; Sokhal, Priya P; Walne, Amanda A; Beswick, Richard R; Kirwan, Michael M; Killick, Sally S; Williams, Mike M; Marsh, Judith J; Vulliamy, Tom T; Dokal, Inderjeet I
Publication Date: 2007-08

Variant appearance in text:
PubMed Link: 17640862
Variant Present in the following documents:
  • Main text
View BVdb publication page