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KCNQ1 c.1072A>G ;(p.K358E)
Variant ID: 11-2606481-A-G
NM_000218.2(
KCNQ1
):c.1072A>G;(p.K358E)
This variant was identified in 2 publications
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: K358E
PubMed Link:
25559286
Variant Present in the following documents:
Main text
srep07474-s1.pdf
srep07474.pdf
View BVdb publication page
Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zaydman, Mark A MA; Silva, Jonathan R JR; Delaloye, Kelli K; Li, Yang Y; Liang, Hongwu H; Larsson, H Peter HP; Shi, Jingyi J; Cui, Jianmin J
Publication Date: 2013-08-06
Variant appearance in text: Kv7.1: K358E
PubMed Link:
23861489
Variant Present in the following documents:
Main text
View BVdb publication page