KCNQ1 c.418_419delinsCC ;(p.S140P)

Variant ID: 11-2549189-AG-CC

NM_000218.2(KCNQ1):c.418_419delinsCC;(p.S140P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation.

Heart Rhythm
Das, Saumya S; Makino, Seiko S; Melman, Yonathan F YF; Shea, Marisa A MA; Goyal, Sanjeev B SB; Rosenzweig, Anthony A; Macrae, Calum A CA; Ellinor, Patrick T PT
Publication Date: 2009-08

Variant appearance in text: KCNQ1: S140P
PubMed Link: 19632626
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels.

The Journal Of Physiology
Restier, Lioara L; Cheng, Lan L; Sanguinetti, Michael C MC
Publication Date: 2008-09-01

Variant appearance in text: KCNQ1: S140P
PubMed Link: 18599533
Variant Present in the following documents:
  • Main text
View BVdb publication page