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KCNQ1 c.470T>A ;(p.F157Y)
Variant ID: 11-2549241-T-A
NM_000218.2(
KCNQ1
):c.470T>A;(p.F157Y)
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:
Targeting the voltage sensor of Kv7.2 voltage-gated K+ channels with a new gating-modifier.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Peretz, Asher A; Pell, Liat L; Gofman, Yana Y; Haitin, Yoni Y; Shamgar, Liora L; Patrich, Eti E; Kornilov, Polina P; Gourgy-Hacohen, Orit O; Ben-Tal, Nir N; Attali, Bernard B
Publication Date: 2010-08-31
Variant appearance in text: Kv7.1: F157Y
PubMed Link:
20713704
Variant Present in the following documents:
Main text
View BVdb publication page