KCNH2 c.1291_1292delinsGC ;(p.F431A)

Variant ID: 7-150649778-AA-GC

NM_000238.3(KCNH2):c.1291_1292delinsGC;(p.F431A)

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:

The S1 helix critically regulates the finely tuned gating of Kv11.1 channels.

The Journal Of Biological Chemistry
Phan, Kevin K; Ng, Chai Ann CA; David, Erikka E; Shishmarev, Dmitry D; Kuchel, Philip W PW; Vandenberg, Jamie I JI; Perry, Matthew D MD
Publication Date: 2017-05-05

Variant appearance in text: Kv11.1: F431A
PubMed Link: 28280240
Variant Present in the following documents:
  • Main text
View BVdb publication page