KAT2A c.2180T>C ;(p.L727P)

Variant ID: 17-40266292-A-G

NM_021078.2(KAT2A):c.2180T>C;(p.L727P)

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: KAT2A: L727P
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.

Cell Reports
Ricketts, Christopher J CJ; De Cubas, Aguirre A AA; Fan, Huihui H; Smith, Christof C CC; Lang, Martin M; Reznik, Ed E; Bowlby, Reanne R; Gibb, Ewan A EA; Akbani, Rehan R; Beroukhim, Rameen R; Bottaro, Donald P DP; Choueiri, Toni K TK; Gibbs, Richard A RA; Godwin, Andrew K AK; Haake, Scott S; Hakimi, A Ari AA; Henske, Elizabeth P EP; Hsieh, James J JJ; Ho, Thai H TH; Kanchi, Rupa S RS; Krishnan, Bhavani B; Kwiatkowski, David J DJ; Lui, Wembin W; Merino, Maria J MJ; Mills, Gordon B GB; Myers, Jerome J; Nickerson, Michael L ML; Reuter, Victor E VE; Schmidt, Laura S LS; Shelley, C Simon CS; Shen, Hui H; Shuch, Brian B; Signoretti, Sabina S; Srinivasan, Ramaprasad R; Tamboli, Pheroze P; Thomas, George G; Vincent, Benjamin G BG; Vocke, Cathy D CD; Wheeler, David A DA; Yang, Lixing L; Kim, William Y WY; Robertson, A Gordon AG; , ; Spellman, Paul T PT; Rathmell, W Kimryn WK; Linehan, W Marston WM
Publication Date: 2018-04-03

Variant appearance in text: KAT2A: 2180T>C; Leu727Pro
PubMed Link: 29617669
Variant Present in the following documents:
  • NIHMS958988-supplement-3.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: KAT2A: L727P
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page