KCNQ1 c.760_762delinsTGT ;(p.V254C)

Variant ID: 11-2593319-GTG-TGT

NM_000218.2(KCNQ1):c.760_762delinsTGT;(p.V254C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The S4-S5 linker of KCNQ1 channels forms a structural scaffold with the S6 segment controlling gate closure.

The Journal Of Biological Chemistry
Labro, Alain J AJ; Boulet, Inge R IR; Choveau, Frank S FS; Mayeur, Evy E; Bruyns, Tine T; Loussouarn, Gildas G; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2011-01-07

Variant appearance in text: KCNQ1: V254C
PubMed Link: 21059661
Variant Present in the following documents:
  • Main text
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