KCNQ1 c.1774_1775delinsGG ;(p.L592G)

Variant ID: 11-2799247-CT-GG

NM_000218.2(KCNQ1):c.1774_1775delinsGG;(p.L592G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Double mutant cycle analysis identified a critical leucine residue in the IIS4S5 linker for the activation of the Ca(V)2.3 calcium channel.

The Journal Of Biological Chemistry
Wall-Lacelle, Sébastien S; Hossain, Md Israil MI; Sauvé, Rémy R; Blunck, Rikard R; Parent, Lucie L
Publication Date: 2011-08-05

Variant appearance in text: KCNQ1: L592G
PubMed Link: 21652722
Variant Present in the following documents:
  • Main text
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