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.




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