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KCNQ1 c.667_669delinsTGG ;(p.A223W)
Variant ID: 11-2592617-GCC-TGG
NM_000218.2(
KCNQ1
):c.667_669delinsTGG;(p.A223W)
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:
KCNE1 remodels the voltage sensor of Kv7.1 to modulate channel function.
Biophysical Journal
Wu, Dick D; Pan, Hua H; Delaloye, Kelli K; Cui, Jianmin J
Publication Date: 2010-12-01
Variant appearance in text: Kv7.1: A223W
PubMed Link:
21112284
Variant Present in the following documents:
Main text
View BVdb publication page