SCN1A c.1720C>T ;(p.L574F)

Variant ID: 2-166900502-G-A

NM_001165963.1(SCN1A):c.1720C>T;(p.L574F)

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: L574F
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Reprogramming of bivalent chromatin states in NRAS mutant melanoma suggests PRC2 inhibition as a therapeutic strategy.

Cell Reports
Terranova, Christopher J CJ; Tang, Ming M; Maitituoheti, Mayinuer M; Raman, Ayush T AT; Ghosh, Archit K AK; Schulz, Jonathan J; Amin, Samir B SB; Orouji, Elias E; Tomczak, Katarzyna K; Sarkar, Sharmistha S; Oba, Junna J; Creasy, Caitlin C; Wu, Chang-Jiun CJ; Khan, Samia S; Lazcano, Rossana R; Wani, Khalida K; Singh, Anand A; Barrodia, Praveen P; Zhao, Dongyu D; Chen, Kaifu K; Haydu, Lauren E LE; Wang, Wei-Lien WL; Lazar, Alexander J AJ; Woodman, Scott E SE; Bernatchez, Chantale C; Rai, Kunal K
Publication Date: 2021-07-20

Variant appearance in text: SCN1A: L574F
PubMed Link: 34289358
Variant Present in the following documents:
  • NIHMS1727018-supplement-2.xlsx, sheet 2
View BVdb publication page



Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Plos One
Coll, Monica M; Striano, Pasquale P; Ferrer-Costa, Carles C; Campuzano, Oscar O; Matés, Jesús J; Del Olmo, Bernat B; Iglesias, Anna A; Pérez-Serra, Alexandra A; Mademont, Irene I; Picó, Ferran F; Oliva, Antonio A; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: SCN1A: 1720C>T
PubMed Link: 29261713
Variant Present in the following documents:
  • Main text
View BVdb publication page