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SCN5A c.4928G>T ;(p.R1643L)
Variant ID: 3-38592932-C-A
NM_000335.4(
SCN5A
):c.4928G>T;(p.R1643L)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09
Variant appearance in text: rs28937316
PubMed Link:
32355288
Variant Present in the following documents:
41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs28937316
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.
Experimental & Molecular Medicine
Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H
Publication Date: 2017-04-14
Variant appearance in text: rs28937316
PubMed Link:
28408749
Variant Present in the following documents:
emm20179x1.xlsx, sheet 4
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs28937316
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
Genomic Medicine
Sudandiradoss, C C; Sethumadhavan, Rao R
Publication Date: 2008-12
Variant appearance in text: rs28937316
PubMed Link:
19214780
Variant Present in the following documents:
Main text
View BVdb publication page