SCN5A c.5691C>T ;(p.R1897=)

Variant ID: 3-38592169-G-A

NM_000335.4(SCN5A):c.5691C>T;(p.R1897=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Targeting genome integrity dysfunctions impedes metastatic potency in non-small cell lung cancer circulating tumor cell-derived explants.

Jci Insight
Tayoun, Tala T; Faugeroux, Vincent V; Oulhen, Marianne M; Déas, Olivier O; Michels, Judith J; Brulle-Soumare, Laura L; Cairo, Stefano S; Scoazec, Jean-Yves JY; Marty, Virginie V; Aberlenc, Agathe A; Planchard, David D; Remon, Jordi J; Ponce, Santiago S; Besse, Benjamin B; Kannouche, Patricia L PL; Judde, Jean-Gabriel JG; Pawlikowska, Patrycja P; Farace, Françoise F
Publication Date: 2022-06-08

Variant appearance in text: SCN5A: R1897R
PubMed Link: 35511434
Variant Present in the following documents:
  • jciinsight-7-155804-s149.xlsx, sheet 15
  • jciinsight-7-155804-s149.xlsx, sheet 18
  • jciinsight-7-155804-s149.xlsx, sheet 16
  • jciinsight-7-155804-s149.xlsx, sheet 19
  • jciinsight-7-155804-s149.xlsx, sheet 17
  • jciinsight-7-155804-s147.xlsx, sheet 5
  • jciinsight-7-155804-s147.xlsx, sheet 3
  • jciinsight-7-155804-s149.xlsx, sheet 20
  • jciinsight-7-155804-s149.xlsx, sheet 14
  • jciinsight-7-155804-s147.xlsx, sheet 7
  • jciinsight-7-155804-s149.xlsx, sheet 13
  • jciinsight-7-155804-s147.xlsx, sheet 2
View BVdb publication page



Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Molecular Therapy. Nucleic Acids
Song, Libin L; Qi, Simin S; Hu, Wei W; Fang, Zhixiao Z; Yu, Dehua D; Liu, Teng T; Wu, Jingni J; Wu, Yangjun Y; Wu, Aiwei A; Feng, Lanyun L; Xie, Jing J; Zhang, Bo B; He, Wenguang W; Ning, Zhouyu Z; Liu, Luming L; Qin, Jiang-Jiang JJ; Li, Shengli S
Publication Date: 2021-12-03

Variant appearance in text: SCN5A: R1897R
PubMed Link: 34513290
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: SCN5A: R1897R
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page