KCNH2 c.2179_2180delinsCG ;(p.D727R)

Variant ID: 7-150647474-TC-CG

NM_000238.3(KCNH2):c.2179_2180delinsCG;(p.D727R)

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:

Multiple interactions between cytoplasmic domains regulate slow deactivation of Kv11.1 channels.

The Journal Of Biological Chemistry
Ng, Chai Ann CA; Phan, Kevin K; Hill, Adam P AP; Vandenberg, Jamie I JI; Perry, Matthew D MD
Publication Date: 2014-09-12

Variant appearance in text: Kv11.1: D727R
PubMed Link: 25074935
Variant Present in the following documents:
  • Main text
View BVdb publication page