SCN5A c.133_135delinsAGC ;(p.G45S)

Variant ID: 3-38674664-CCC-GCT

NM_000335.4(SCN5A):c.133_135delinsAGC;(p.G45S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Genome Medicine
Vettore, Andre Luiz AL; Ramnarayanan, Kalpana K; Poore, Gregory G; Lim, Kevin K; Ong, Choon Kiat CK; Huang, Kie Kyon KK; Leong, Hui Sun HS; Chong, Fui Teen FT; Lim, Tony Kiat-Hon TK; Lim, Weng Khong WK; Cutcutache, Ioana I; Mcpherson, John R JR; Suzuki, Yuka Y; Zhang, Shenli S; Skanthakumar, Thakshayeni T; Wang, Weining W; Tan, Daniel S W DS; Cho, Byoung Chul BC; Teh, Bin Tean BT; Rozen, Steve S; Tan, Patrick P; Iyer, N Gopalakrishna NG
Publication Date: 2015-09-23

Variant appearance in text: SCN5A: G45S
PubMed Link: 26395002
Variant Present in the following documents:
  • 13073_2015_219_MOESM12_ESM.xls, sheet 1
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Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Moore, Jeffrey K JK; Sept, David D; Cooper, John A JA
Publication Date: 2009-03-31

Variant appearance in text: ICCD: G45S
PubMed Link: 19279216
Variant Present in the following documents:
  • Main text
View BVdb publication page