SCN5A c.34A>T ;(p.S12C)

Variant ID: 3-38674765-T-A

NM_000335.4(SCN5A):c.34A>T;(p.S12C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Characterizing mobile element insertions in 5675 genomes.

Nucleic Acids Research
Niu, Yiwei Y; Teng, Xueyi X; Zhou, Honghong H; Shi, Yirong Y; Li, Yanyan Y; Tang, Yiheng Y; Zhang, Peng P; Luo, Huaxia H; Kang, Quan Q; Xu, Tao T; He, Shunmin S
Publication Date: 2022-03-21

Variant appearance in text: SCN5A: S12C
PubMed Link: 35212372
Variant Present in the following documents:
  • gkac128.pdf
View BVdb publication page



From spikes to intercellular waves: Tuning intercellular calcium signaling dynamics modulates organ size control.

Plos Computational Biology
Soundarrajan, Dharsan K DK; Huizar, Francisco J FJ; Paravitorghabeh, Ramezan R; Robinett, Trent T; Zartman, Jeremiah J JJ
Publication Date: 2021-11

Variant appearance in text: HB1: S12C
PubMed Link: 34723960
Variant Present in the following documents:
  • pcbi.1009543.pdf
View BVdb publication page



Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Dastidar, Sumitava S; Majumdar, Debanjana D; Tipanee, Jaitip J; Singh, Kshitiz K; Klein, Arnaud F AF; Furling, Denis D; Chuah, Marinee K MK; VandenDriessche, Thierry T
Publication Date: 2022-01-05

Variant appearance in text: SCN5A: S12C
PubMed Link: 34371182
Variant Present in the following documents:
  • Main text
  • mmc16.pdf
  • main.pdf
View BVdb publication page



Coherent Electron Transport across a 3 nm Bioelectronic Junction Made of Multi-Heme Proteins.

The Journal Of Physical Chemistry Letters
Futera, Zdenek Z; Ide, Ichiro I; Kayser, Ben B; Garg, Kavita K; Jiang, Xiuyun X; van Wonderen, Jessica H JH; Butt, Julea N JN; Ishii, Hisao H; Pecht, Israel I; Sheves, Mordechai M; Cahen, David D; Blumberger, Jochen J
Publication Date: 2020-11-19

Variant appearance in text: HB2: S12c
PubMed Link: 33142062
Variant Present in the following documents:
  • jz0c02686_si_001.pdf
View BVdb publication page



Tumor-derived neomorphic mutations in ASXL1 impairs the BAP1-ASXL1-FOXK1/K2 transcription network.

Protein & Cell
Xia, Yu-Kun YK; Zeng, Yi-Rong YR; Zhang, Meng-Li ML; Liu, Peng P; Liu, Fang F; Zhang, Hao H; He, Chen-Xi CX; Sun, Yi-Ping YP; Zhang, Jin-Ye JY; Zhang, Cheng C; Song, Lei L; Ding, Chen C; Tang, Yu-Jie YJ; Yang, Zhen Z; Yang, Chen C; Wang, Pu P; Guan, Kun-Liang KL; Xiong, Yue Y; Ye, Dan D
Publication Date: 2021-07

Variant appearance in text: HB1: S12C
PubMed Link: 32683582
Variant Present in the following documents:
  • Main text
  • 13238_2020_Article_754.pdf
View BVdb publication page



The cell surface marker CD36 selectively identifies matured, mitochondria-rich hPSC-cardiomyocytes.

Cell Research
Poon, Ellen Ngar-Yun EN; Luo, Xiao-Ling XL; Webb, Sarah E SE; Yan, Bin B; Zhao, Rui R; Wu, Stanley Chun Ming SCM; Yang, Yong Y; Zhang, Peng P; Bai, Huajun H; Shao, Jiaofang J; Chan, Ching Man CM; Chan, Godfrey Chi-Fung GC; Tsang, Suk Ying SY; Gundry, Rebekah L RL; Yang, Huang-Tian HT; Boheler, Kenneth R KR
Publication Date: 2020-07

Variant appearance in text: SCN5A: S12c
PubMed Link: 32157205
Variant Present in the following documents:
  • Main text
  • 41422_2020_Article_292.pdf
View BVdb publication page