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KCNQ1 c.1315_1316inv ;(p.T439V)
Variant ID: 11-2610006-AC-GT
NM_000218.2(
KCNQ1
):c.1315_1316inv;(p.T439V)
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:
Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I.
Epilepsia Open
Maghera, Jasmine J; Li, Jingru J; Lamothe, Shawn M SM; Braun, Marvin M; Appendino, Juan P JP; Au, P Y Billie PYB; Kurata, Harley T HT
Publication Date: 2020-12
Variant appearance in text: KCNQ1: T439V
PubMed Link:
33336127
Variant Present in the following documents:
Main text
View BVdb publication page
Hydrogen bonds as molecular timers for slow inactivation in voltage-gated potassium channels.
Elife
Pless, Stephan A SA; Galpin, Jason D JD; Niciforovic, Ana P AP; Kurata, Harley T HT; Ahern, Christopher A CA
Publication Date: 2013-12-10
Variant appearance in text: Kv7.1: Thr439Val
PubMed Link:
24327560
Variant Present in the following documents:
Main text
elife01289.pdf
View BVdb publication page