KCNQ1 c.1768_1770delinsTAA ;(p.A590*)

Variant ID: 11-2799241-GCC-TAA

NM_000218.2(KCNQ1):c.1768_1770delinsTAA;(p.A590*)

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:

C-terminal interaction of KCNQ2 and KCNQ3 K+ channels.

The Journal Of Physiology
Maljevic, Snezana S; Lerche, Christian C; Seebohm, Guiscard G; Alekov, Alexi K AK; Busch, Andreas E AE; Lerche, Holger H
Publication Date: 2003-04-15

Variant appearance in text: KCNQ1: A590X
PubMed Link: 12640002
Variant Present in the following documents:
  • Main text
View BVdb publication page