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KCNQ1 c.1057_1058delinsTG ;(p.L353W)
Variant ID: 11-2606466-CT-TG
NM_000218.2(
KCNQ1
):c.1057_1058delinsTG;(p.L353W)
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:
Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.
Communications Biology
Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB
Publication Date: 2021-12-14
Variant appearance in text: KCNQ1: L353W
PubMed Link:
34907346
Variant Present in the following documents:
Main text
42003_2021_Article_2909.pdf
View BVdb publication page
Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.
Communications Biology
Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB
Publication Date: 2021-12-14
Variant appearance in text: KCNQ1: L353W
PubMed Link:
34907346
Variant Present in the following documents:
Main text
42003_2021_Article_2909.pdf
View BVdb publication page
Role of the S6 C-terminus in KCNQ1 channel gating.
The Journal Of Physiology
Boulet, Inge R IR; Labro, Alain J AJ; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2007-12-01
Variant appearance in text: KCNQ1: L353W
PubMed Link:
17932138
Variant Present in the following documents:
Main text
View BVdb publication page