SCN1A c.2683C>T ;(p.L895F)

Variant ID: 2-166894549-G-A

NM_001165963.1(SCN1A):c.2683C>T;(p.L895F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: SCN1A: L895F
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: SCN1A: L895F
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Reprogramming of bivalent chromatin states in NRAS mutant melanoma suggests PRC2 inhibition as a therapeutic strategy.

Cell Reports
Terranova, Christopher J CJ; Tang, Ming M; Maitituoheti, Mayinuer M; Raman, Ayush T AT; Ghosh, Archit K AK; Schulz, Jonathan J; Amin, Samir B SB; Orouji, Elias E; Tomczak, Katarzyna K; Sarkar, Sharmistha S; Oba, Junna J; Creasy, Caitlin C; Wu, Chang-Jiun CJ; Khan, Samia S; Lazcano, Rossana R; Wani, Khalida K; Singh, Anand A; Barrodia, Praveen P; Zhao, Dongyu D; Chen, Kaifu K; Haydu, Lauren E LE; Wang, Wei-Lien WL; Lazar, Alexander J AJ; Woodman, Scott E SE; Bernatchez, Chantale C; Rai, Kunal K
Publication Date: 2021-07-20

Variant appearance in text: SCN1A: L895F
PubMed Link: 34289358
Variant Present in the following documents:
  • NIHMS1727018-supplement-2.xlsx, sheet 2
View BVdb publication page



Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy
Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S
Publication Date: 2022-06

Variant appearance in text: SCN1A: L895F
PubMed Link: 34045664
Variant Present in the following documents:
  • 41417_2021_347_MOESM4_ESM.xls, sheet 2
View BVdb publication page