KCNQ1 c.422_423delinsAC ;(p.V141D)

Variant ID: 11-2549193-TG-AC

NM_000218.2(KCNQ1):c.422_423delinsAC;(p.V141D)

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:

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: V141D
PubMed Link: 18599533
Variant Present in the following documents:
  • Main text
View BVdb publication page