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KCNQ1 c.883_885delinsTGT ;(p.E295C)
Variant ID: 11-2594178-GAG-TGT
NM_000218.2(
KCNQ1
):c.883_885delinsTGT;(p.E295C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
KCNE1 tunes the sensitivity of KV7.1 to polyunsaturated fatty acids by moving turret residues close to the binding site.
Elife
Larsson, Johan E JE; Larsson, H Peter HP; Liin, Sara I SI
Publication Date: 2018-07-17
Variant appearance in text: KCNQ1: E295C
PubMed Link:
30014849
Variant Present in the following documents:
Main text
elife-37257.pdf
View BVdb publication page
Identification of a key residue in Kv7.1 potassium channel essential for sensing external potassium ions.
The Journal Of General Physiology
Wang, Wenying W; Flores, Maria Cristina Perez MC; Sihn, Choong-Ryoul CR; Kim, Hyo Jeong HJ; Zhang, Yinuo Y; Doyle, Karen J KJ; Chiamvimonvat, Nipavan N; Zhang, Xiao-Dong XD; Yamoah, Ebenezer N EN
Publication Date: 2015-03
Variant appearance in text: Kv7.1: E295C
PubMed Link:
25712016
Variant Present in the following documents:
Main text
JGP_201411280.pdf
View BVdb publication page
Building KCNQ1/KCNE1 channel models and probing their interactions by molecular-dynamics simulations.
Biophysical Journal
Xu, Yu Y; Wang, Yuhong Y; Meng, Xuan-Yu XY; Zhang, Mei M; Jiang, Min M; Cui, Meng M; Tseng, Gea-Ny GN
Publication Date: 2013-12-03
Variant appearance in text: KCNQ1: E295C
PubMed Link:
24314077
Variant Present in the following documents:
Main text
View BVdb publication page