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KCNQ1 c.952_953delinsGC ;(p.K318A)
Variant ID: 11-2604695-AA-GC
NM_000218.2(
KCNQ1
):c.952_953delinsGC;(p.K318A)
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:
Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.
Biophysical Journal
Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V
Publication Date: 2011-02-16
Variant appearance in text: KCNQ1: K318A
PubMed Link:
21320432
Variant Present in the following documents:
Main text
View BVdb publication page