DNAH11 c.1024C>T ;(p.L342=)

Variant ID: 7-21603845-C-T

NM_001277115.1(DNAH11):c.1024C>T;(p.L342=)

This variant was identified in 2 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: DNAH11: L342L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: DNAH11: L342=
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 31
View BVdb publication page