KCNQ1 c.847_848delinsTG ;(p.A283C)

Variant ID: 11-2594142-GC-TG

NM_000218.2(KCNQ1):c.847_848delinsTG;(p.A283C)

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:

Atomistic Insights of Calmodulin Gating of Complete Ion Channels.

International Journal Of Molecular Sciences
Núñez, Eider E; Muguruza-Montero, Arantza A; Villarroel, Alvaro A
Publication Date: 2020-02-14

Variant appearance in text: KCNQ1: A283C
PubMed Link: 32075037
Variant Present in the following documents:
  • Main text
  • ijms-21-01285.pdf
View BVdb publication page