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