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KCNQ1 c.1020T>A ;(p.F340L)
Variant ID: 11-2604763-T-A
NM_000218.2(
KCNQ1
):c.1020T>A;(p.F340L)
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:
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Plos Computational Biology
Phul, Saksham S; Kuenze, Georg G; Vanoye, Carlos G CG; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J
Publication Date: 2022-04
Variant appearance in text: KCNQ1: F340L
PubMed Link:
35442947
Variant Present in the following documents:
Main text
pcbi.1010038.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: F340L
PubMed Link:
32431610
Variant Present in the following documents:
Main text
Table_1.xlsx, sheet 1
View BVdb publication page