SCN1A c.560G>A ;(p.R187Q)

Variant ID: 2-166911190-C-T

NM_001165963.1(SCN1A):c.560G>A;(p.R187Q)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-Generation Sequencing Technique.

Balkan Medical Journal
Atlı, Engin E; Gürkan, Hakan H; Güldiken, Babürhan B; Eker, Damla D; Yalçıntepe, Sinem S; Demir, Selma S; Atlı, Emine İkbal Eİ
Publication Date: 2022-11-14

Variant appearance in text: SCN1A: 560G>A; Arg187Gln; rs777631884
PubMed Link: 36374051
Variant Present in the following documents:
  • Main text
  • BMJ-40-13.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: SCN1A: 560G>A; R187Q
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism.

Molecular Genetics & Genomic Medicine
Guo, Liyuan L; Jin, Bo B; Zhang, Yidan Y; Wang, Jing J
Publication Date: 2020-11

Variant appearance in text: SCN1A: 560G>A; R187Q
PubMed Link: 32875726
Variant Present in the following documents:
  • MGG3-8-e1478-s001.pdf
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: SCN1A: 560G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

Plos Genetics
Hiatt, Susan M SM; Neu, Matthew B MB; Ramaker, Ryne C RC; Hardigan, Andrew A AA; Prokop, Jeremy W JW; Hancarova, Miroslava M; Prchalova, Darina D; Havlovicova, Marketa M; Prchal, Jan J; Stranecky, Viktor V; Yim, Dwight K C DKC; Powis, Zöe Z; Keren, Boris B; Nava, Caroline C; Mignot, Cyril C; Rio, Marlene M; Revah-Politi, Anya A; Hemati, Parisa P; Stong, Nicholas N; Iglesias, Alejandro D AD; Suchy, Sharon F SF; Willaert, Rebecca R; Wentzensen, Ingrid M IM; Wheeler, Patricia G PG; Brick, Lauren L; Kozenko, Mariya M; Hurst, Anna C E ACE; Wheless, James W JW; Lacassie, Yves Y; Myers, Richard M RM; Barsh, Gregory S GS; Sedlacek, Zdenek Z; Cooper, Gregory M GM
Publication Date: 2018-11

Variant appearance in text: SCN1A: R187Q
PubMed Link: 30500825
Variant Present in the following documents:
  • Main text
  • pgen.1007671.pdf
View BVdb publication page



Olaparib is effective in combination with, and as maintenance therapy after, first-line endocrine therapy in prostate cancer cells.

Molecular Oncology
Feiersinger, Gertrud E GE; Trattnig, Kristina K; Leitner, Peter D PD; Guggenberger, Fabian F; Oberhuber, Alexander A; Peer, Sarah S; Hermann, Martin M; Skvortsova, Ira I; Vrbkova, Jana J; Bouchal, Jan J; Culig, Zoran Z; Santer, Frédéric R FR
Publication Date: 2018-04

Variant appearance in text: SCN1A: 560G>A; R187Q
PubMed Link: 29465803
Variant Present in the following documents:
  • MOL2-12-561-s006.xlsx, sheet 2
View BVdb publication page



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: 560G>A; R187Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page