SCN1A c.3241G>A ;(p.G1081R)

Variant ID: 2-166892746-C-T

NM_001165963.1(SCN1A):c.3241G>A;(p.G1081R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: SCN1A: 3241G>A; G1081R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.

Embo Molecular Medicine
Castellsagué, Joan J; Gel, Bernat B; Fernández-Rodríguez, Juana J; Llatjós, Roger R; Blanco, Ignacio I; Benavente, Yolanda Y; Pérez-Sidelnikova, Diana D; García-Del Muro, Javier J; Viñals, Joan Maria JM; Vidal, August A; Valdés-Mas, Rafael R; Terribas, Ernest E; López-Doriga, Adriana A; Pujana, Miguel Angel MA; Capellá, Gabriel G; Puente, Xose S XS; Serra, Eduard E; Villanueva, Alberto A; Lázaro, Conxi C
Publication Date: 2015-05

Variant appearance in text: SCN1A: G1081R
PubMed Link: 25810463
Variant Present in the following documents:
  • emmm0007-0608-sd2.xlsx, sheet 5
View BVdb publication page



A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

American Journal Of Human Genetics
Escayg, A A; Heils, A A; MacDonald, B T BT; Haug, K K; Sander, T T; Meisler, M H MH
Publication Date: 2001-04

Variant appearance in text: SCN1A: G1081R
PubMed Link: 11254445
Variant Present in the following documents:
  • Main text
View BVdb publication page