SCN4A c.3205G>A ;(p.D1069N)

Variant ID: 17-62025363-C-T

NM_000334.4(SCN4A):c.3205G>A;(p.D1069N)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24

Variant appearance in text: SCN4A: 3205G>A; Asp1069Asn
PubMed Link: 36865150
Variant Present in the following documents:
  • media-2.xlsx, sheet 9
View BVdb publication page



GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: SCN4A: D1069N; rs373150395
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.

Theranostics
Liu, Xuesong X; Hong, Ruoxi R; Du, Peina P; Yang, Di D; He, Meibo M; Wu, Qingnan Q; Li, Lin L; Wang, Yan Y; Chen, Jie J; Min, Qingjie Q; Li, Jinting J; Zhang, Weimin W; Zhan, Qimin Q
Publication Date: 2022

Variant appearance in text: SCN4A: 3205G>A; D1069N
PubMed Link: 36168622
Variant Present in the following documents:
  • thnov12p6160s2.xlsx, sheet 2
View BVdb publication page



Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype.

Frontiers In Pediatrics
Berghold, Veronika M VM; Koko, Mahmoud M; Berutti, Riccardo R; Plecko, Barbara B
Publication Date: 2022

Variant appearance in text: SCN4A: D1069N
PubMed Link: 36090556
Variant Present in the following documents:
  • Table_1.pdf
View BVdb publication page



Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN4A: D1069N
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.

Frontiers In Pharmacology
Nicole, Sophie S; Lory, Philippe P
Publication Date: 2021

Variant appearance in text: Nav1.4: Asp1069Asn
PubMed Link: 34671263
Variant Present in the following documents:
  • Main text
  • fphar-12-751095.pdf
View BVdb publication page



Roles for Countercharge in the Voltage Sensor Domain of Ion Channels.

Frontiers In Pharmacology
Groome, James R JR; Bayless-Edwards, Landon L
Publication Date: 2020

Variant appearance in text: SCN4A: D1069N
PubMed Link: 32180723
Variant Present in the following documents:
  • Main text
  • fphar-11-00160.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: SCN4A: D1069N
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 32
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs373150395
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: SCN4A: 3205G>A; D1069N
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: HYPP: D1069N
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.

Gigascience
Cheng, Caixia C; Cui, Heyang H; Zhang, Ling L; Jia, Zhiwu Z; Song, Bin B; Wang, Fang F; Li, Yaoping Y; Liu, Jing J; Kong, Pengzhou P; Shi, Ruyi R; Bi, Yanghui Y; Yang, Bin B; Wang, Juan J; Zhao, Zhenxiang Z; Zhang, Yanyan Y; Hu, Xiaoling X; Yang, Jie J; He, Chanting C; Zhao, Zhiping Z; Wang, Jinfen J; Xi, Yanfeng Y; Xu, Enwei E; Li, Guodong G; Guo, Shiping S; Chen, Yunqing Y; Yang, Xiaofeng X; Chen, Xing X; Liang, Jianfang J; Guo, Jiansheng J; Cheng, Xiaolong X; Wang, Chuangui C; Zhan, Qimin Q; Cui, Yongping Y
Publication Date: 2016

Variant appearance in text: SCN4A: 3205G>A; D1069N
PubMed Link: 26759717
Variant Present in the following documents:
  • 13742_2015_107_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Brain : A Journal Of Neurology
Zaharieva, Irina T IT; Thor, Michael G MG; Oates, Emily C EC; van Karnebeek, Clara C; Hendson, Glenda G; Blom, Eveline E; Witting, Nanna N; Rasmussen, Magnhild M; Gabbett, Michael T MT; Ravenscroft, Gianina G; Sframeli, Maria M; Suetterlin, Karen K; Sarkozy, Anna A; D'Argenzio, Luigi L; Hartley, Louise L; Matthews, Emma E; Pitt, Matthew M; Vissing, John J; Ballegaard, Martin M; Krarup, Christian C; Slørdahl, Andreas A; Halvorsen, Hanne H; Ye, Xin Cynthia XC; Zhang, Lin-Hua LH; Løkken, Nicoline N; Werlauff, Ulla U; Abdelsayed, Mena M; Davis, Mark R MR; Feng, Lucy L; Phadke, Rahul R; Sewry, Caroline A CA; Morgan, Jennifer E JE; Laing, Nigel G NG; Vallance, Hilary H; Ruben, Peter P; Hanna, Michael G MG; Lewis, Suzanne S; Kamsteeg, Erik-Jan EJ; Männikkö, Roope R; Muntoni, Francesco F
Publication Date: 2016-03

Variant appearance in text: Nav1.4: D1069N
PubMed Link: 26700687
Variant Present in the following documents:
  • Main text
  • awv352.pdf
View BVdb publication page



Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.

American Journal Of Human Genetics
Zhang, Ling L; Zhou, Yong Y; Cheng, Caixia C; Cui, Heyang H; Cheng, Le L; Kong, Pengzhou P; Wang, Jiaqian J; Li, Yin Y; Chen, Wenliang W; Song, Bin B; Wang, Fang F; Jia, Zhiwu Z; Li, Lin L; Li, Yaoping Y; Yang, Bin B; Liu, Jing J; Shi, Ruyi R; Bi, Yanghui Y; Zhang, Yanyan Y; Wang, Juan J; Zhao, Zhenxiang Z; Hu, Xiaoling X; Yang, Jie J; Li, Hongyi H; Gao, Zhibo Z; Chen, Gang G; Huang, Xuanlin X; Yang, Xukui X; Wan, Shengqing S; Chen, Chao C; Li, Bin B; Tan, Yongkai Y; Chen, Longyun L; He, Minghui M; Xie, Sha S; Li, Xiangchun X; Zhuang, Xuehan X; Wang, Mengyao M; Xia, Zhi Z; Luo, Longhai L; Ma, Jie J; Dong, Bing B; Zhao, Jiuzhou J; Song, Yongmei Y; Ou, Yunwei Y; Li, Enming E; Xu, Liyan L; Wang, Jinfen J; Xi, Yanfeng Y; Li, Guodong G; Xu, Enwei E; Liang, Jianfang J; Yang, Xiaofeng X; Guo, Jiansheng J; Chen, Xing X; Zhang, Yanbo Y; Li, Qingshan Q; Liu, Lixin L; Li, Yingrui Y; Zhang, Xiuqing X; Yang, Huanming H; Lin, Dongxin D; Cheng, Xiaolong X; Guo, Yongjun Y; Wang, Jun J; Zhan, Qimin Q; Cui, Yongping Y
Publication Date: 2015-04-02

Variant appearance in text: SCN4A: 3205G>A; D1069N
PubMed Link: 25839328
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Asymmetric functional contributions of acidic and aromatic side chains in sodium channel voltage-sensor domains.

The Journal Of General Physiology
Pless, Stephan A SA; Elstone, Fisal D FD; Niciforovic, Ana P AP; Galpin, Jason D JD; Yang, Runying R; Kurata, Harley T HT; Ahern, Christopher A CA
Publication Date: 2014-05

Variant appearance in text: Nav1.4: Asp1069Asn
PubMed Link: 24778431
Variant Present in the following documents:
  • JGP_201311036.pdf
View BVdb publication page