Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNQ1 c.674_675delinsGT ;(p.S225C)
Variant ID: 11-2592624-CG-GT
NM_000218.2(
KCNQ1
):c.674_675delinsGT;(p.S225C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
S1 constrains S4 in the voltage sensor domain of Kv7.1 K+ channels.
Plos One
Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Shamgar, Liora L; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2008-04-09
Variant appearance in text: Kv7.1: S225C
PubMed Link:
18398461
Variant Present in the following documents:
Main text
View BVdb publication page
KCNE1 and KCNE3 stabilize and/or slow voltage sensing S4 segment of KCNQ1 channel.
The Journal Of General Physiology
Nakajo, Koichi K; Kubo, Yoshihiro Y
Publication Date: 2007-09
Variant appearance in text: KCNQ1: S225C
PubMed Link:
17698596
Variant Present in the following documents:
Main text
jgp1300269.pdf
View BVdb publication page