SCN1A c.1978C>A ;(p.P660T)

Variant ID: 2-166900244-G-T

NM_001165963.1(SCN1A):c.1978C>A;(p.P660T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: SCN1A: 1978C>A; P660T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



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: SCN1A: P660T
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Data on mutations and Clinical features in SCN1A or SCN2A gene.

Data In Brief
Kong, Yanting Y; Yan, Kai K; Hu, Liyuan L; Wang, Mingbang M; Dong, Xinran X; Lu, Yulan Y; Wu, Bingbing B; Wang, Huijun H; Yang, Lin L; Zhou, Wenhao W
Publication Date: 2019-02

Variant appearance in text: SCN1A: 1978C>A; P660T
PubMed Link: 30619928
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page