Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNQ1 c.1084A>G ;(p.K362E)
Variant ID: 11-2606493-A-G
NM_000218.2(
KCNQ1
):c.1084A>G;(p.K362E)
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:
Physical and functional interaction sites in cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.
American Journal Of Physiology. Heart And Circulatory Physiology
Chen, Jerri J; Liu, Zhenning Z; Creagh, John J; Zheng, Renjian R; McDonald, Thomas V TV
Publication Date: 2020-02-01
Variant appearance in text: KCNQ1: K362E
PubMed Link:
31834838
Variant Present in the following documents:
Main text
View BVdb publication page
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: K362E
PubMed Link:
25559286
Variant Present in the following documents:
Main text
srep07474-s1.pdf
srep07474.pdf
View BVdb publication page