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