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KCNQ1 c.358_359delinsGC ;(p.W120A)
Variant ID: 11-2466686-TG-GC
NM_000218.2(
KCNQ1
):c.358_359delinsGC;(p.W120A)
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:
KCNQ1 subdomains involved in KCNE modulation revealed by an invertebrate KCNQ1 orthologue.
The Journal Of General Physiology
Nakajo, Koichi K; Nishino, Atsuo A; Okamura, Yasushi Y; Kubo, Yoshihiro Y
Publication Date: 2011-11
Variant appearance in text: KCNQ1: W120A
PubMed Link:
22042987
Variant Present in the following documents:
Main text
JGP_201110677.pdf
View BVdb publication page