SCN5A c.649G>A ;(p.A217T)

Variant ID: 3-38655288-C-T

NM_000335.4(SCN5A):c.649G>A;(p.A217T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Single-cell transcriptomic analysis suggests two molecularly subtypes of intrahepatic cholangiocarcinoma.

Nature Communications
Song, Guohe G; Shi, Yang Y; Meng, Lu L; Ma, Jiaqiang J; Huang, Siyuan S; Zhang, Juan J; Wu, Yingcheng Y; Li, Jiaxin J; Lin, Youpei Y; Yang, Shuaixi S; Rao, Dongning D; Cheng, Yifei Y; Lin, Jian J; Ji, Shuyi S; Liu, Yuming Y; Jiang, Shan S; Wang, Xiaoliang X; Zhang, Shu S; Ke, Aiwu A; Wang, Xiaoying X; Cao, Ya Y; Ji, Yuan Y; Zhou, Jian J; Fan, Jia J; Zhang, Xiaoming X; Xi, Ruibin R; Gao, Qiang Q
Publication Date: 2022-03-28

Variant appearance in text: SCN5A: 649G>A; A217T
PubMed Link: 35347134
Variant Present in the following documents:
  • 41467_2022_29164_MOESM13_ESM.xlsx, sheet 9
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: SCN5A: 649G>A; A217T
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page