KCNH2 c.56T>G ;(p.I19S)

Variant ID: 7-150674946-A-C

NM_000238.3(KCNH2):c.56T>G;(p.I19S)

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:

Role of the cytoplasmic N-terminal Cap and Per-Arnt-Sim (PAS) domain in trafficking and stabilization of Kv11.1 channels.

The Journal Of Biological Chemistry
Ke, Ying Y; Hunter, Mark J MJ; Ng, Chai Ann CA; Perry, Matthew D MD; Vandenberg, Jamie I JI
Publication Date: 2014-05-16

Variant appearance in text: Kv11.1: I19S
PubMed Link: 24695734
Variant Present in the following documents:
  • Main text
View BVdb publication page