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KCNQ1 c.1615_1617delinsTTT ;(p.R539F)
Variant ID: 11-2797214-CGG-TTT
NM_000218.2(
KCNQ1
):c.1615_1617delinsTTT;(p.R539F)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A long QT mutation substitutes cholesterol for phosphatidylinositol-4,5-bisphosphate in KCNQ1 channel regulation.
Plos One
Coyan, Fabien C FC; Abderemane-Ali, Fayal F; Amarouch, Mohamed Yassine MY; Piron, Julien J; Mordel, Jérôme J; Nicolas, Céline S CS; Steenman, Marja M; Mérot, Jean J; Marionneau, Céline C; Thomas, Annick A; Brasseur, Robert R; Baró, Isabelle I; Loussouarn, Gildas G
Publication Date: 2014
Variant appearance in text: KCNQ1: R539F
PubMed Link:
24681627
Variant Present in the following documents:
Main text
pone.0093255.pdf
View BVdb publication page