Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
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: V254C
PubMed Link:
21059661
Variant Present in the following documents:
Main text
View BVdb publication page