CLN5 c.42G>C ;(p.R14=)

Variant ID: 13-77566275-G-C

NM_006493.2(CLN5):c.42G>C;(p.R14=)

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: CLN5: R63R
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



The ERBB-STAT3 Axis Drives Tasmanian Devil Facial Tumor Disease.

Cancer Cell
Kosack, Lindsay L; Wingelhofer, Bettina B; Popa, Alexandra A; Orlova, Anna A; Agerer, Benedikt B; Vilagos, Bojan B; Majek, Peter P; Parapatics, Katja K; Lercher, Alexander A; Ringler, Anna A; Klughammer, Johanna J; Smyth, Mark M; Khamina, Kseniya K; Baazim, Hatoon H; de Araujo, Elvin D ED; Rosa, David A DA; Park, Jisung J; Tin, Gary G; Ahmar, Siawash S; Gunning, Patrick T PT; Bock, Christoph C; Siddle, Hannah V HV; Woods, Gregory M GM; Kubicek, Stefan S; Murchison, Elizabeth P EP; Bennett, Keiryn L KL; Moriggl, Richard R; Bergthaler, Andreas A
Publication Date: 2019-01-14

Variant appearance in text: CLN5: Arg63Arg
PubMed Link: 30645971
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page