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KCNQ1 c.420C>G ;(p.S140R)
Variant ID: 11-2549191-C-G
NM_000218.2(
KCNQ1
):c.420C>G;(p.S140R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
Plos Computational Biology
Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE
Publication Date: 2020-08
Variant appearance in text: KCNQ1: S140R
PubMed Link:
32797034
Variant Present in the following documents:
Main text
pcbi.1008109.pdf
View BVdb publication page
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: KCNQ1: S140R
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.pdf
Table_1.xlsx, sheet 1
View BVdb publication page