TLN2 c.84C>A ;(p.Y28*)

Variant ID: 15-62939593-C-A

NM_015059.2(TLN2):c.84C>A;(p.Y28*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: TLN2: Y28*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Cancer of Unknown Primary (CUP): genetic evidence for a novel nosological entity? A case report.

Embo Molecular Medicine
Benvenuti, Silvia S; Milan, Melissa M; Geuna, Elena E; Pisacane, Alberto A; Senetta, Rebecca R; Gambardella, Gennaro G; Stella, Giulia M GM; Montemurro, Filippo F; Sapino, Anna A; Boccaccio, Carla C; Comoglio, Paolo M PM
Publication Date: 2020-07-07

Variant appearance in text: TLN2: Y28X
PubMed Link: 32511869
Variant Present in the following documents:
  • EMMM-12-e11756-s005.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TLN2: Y28*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page