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KCNQ1 c.547A>C ;(p.K183Q)
Variant ID: 11-2591927-A-C
NM_000218.2(
KCNQ1
):c.547A>C;(p.K183Q)
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:
PIPâ‚‚-dependent coupling is prominent in Kv7.1 due to weakened interactions between S4-S5 and S6.
Scientific Reports
Kasimova, Marina A MA; Zaydman, Mark A MA; Cui, Jianmin J; Tarek, Mounir M
Publication Date: 2015-01-06
Variant appearance in text: Kv7.1: K183Q
PubMed Link:
25559286
Variant Present in the following documents:
Main text
srep07474.pdf
View BVdb publication page