SCN1A c.4018C>T ;(p.L1340F)

Variant ID: 2-166859248-G-A

NM_001165963.1(SCN1A):c.4018C>T;(p.L1340F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Single-cell transcriptomics links malignant T cells to the tumor immune landscape in cutaneous T cell lymphoma.

Nature Communications
Liu, Xiangjun X; Jin, Shanzhao S; Hu, Simeng S; Li, Ruoyan R; Pan, Haihao H; Liu, Yi Y; Lai, Pan P; Xu, Deshu D; Sun, Jingru J; Liu, Ziyang Z; Gao, Yumei Y; Zhao, Yifan Y; Liu, Fengjie F; Xiao, Yu Y; Li, Yingyi Y; Wen, Yujie Y; Chen, Zhuojing Z; Xu, Bufang B; Lin, Yuchieh Y; Ran, Menglong M; Li, Qianxi Q; Yang, Shuxia S; Li, Hang H; Tu, Ping P; Haniffa, Muzlifah M; Teichmann, Sarah A SA; Bai, Fan F; Wang, Yang Y
Publication Date: 2022-03-03

Variant appearance in text: SCN1A: L1340F
PubMed Link: 35241665
Variant Present in the following documents:
  • 41467_2022_28799_MOESM6_ESM.xlsx, sheet 6
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: L1340F
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page