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.




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