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KCNQ1 c.1201_1203delinsAAC ;(p.R401N)
Variant ID: 11-2608872-CGG-AAC
NM_000218.2(
KCNQ1
):c.1201_1203delinsAAC;(p.R401N)
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:
Independent and cooperative motions of the Kv1.2 channel: voltage sensing and gating.
Biophysical Journal
Yeheskel, Adva A; Haliloglu, Turkan T; Ben-Tal, Nir N
Publication Date: 2010-05-19
Variant appearance in text: Kv7.1: R401N
PubMed Link:
20483326
Variant Present in the following documents:
Main text
View BVdb publication page