SCN5A c.130G>C ;(p.E44Q)

Variant ID: 3-38674669-C-G

NM_000335.4(SCN5A):c.130G>C;(p.E44Q)

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: SCN5A: E44Q
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



MerMAIDs: a family of metagenomically discovered marine anion-conducting and intensely desensitizing channelrhodopsins.

Nature Communications
Oppermann, Johannes J; Fischer, Paul P; Silapetere, Arita A; Liepe, Bernhard B; Rodriguez-Rozada, Silvia S; Flores-Uribe, José J; Peter, Enrico E; Keidel, Anke A; Vierock, Johannes J; Kaufmann, Joel J; Broser, Matthias M; Luck, Meike M; Bartl, Franz F; Hildebrandt, Peter P; Wiegert, J Simon JS; Béjà, Oded O; Hegemann, Peter P; Wietek, Jonas J
Publication Date: 2019-07-25

Variant appearance in text: ICCD: E44Q
PubMed Link: 31346176
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_11322.pdf
View BVdb publication page