KCNQ1 c.760_761delinsAA ;(p.V254K)

Variant ID: 11-2593319-GT-AA

NM_000218.2(KCNQ1):c.760_761delinsAA;(p.V254K)

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:

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: V254K
PubMed Link: 21059661
Variant Present in the following documents:
  • Main text
View BVdb publication page