KCNH2 c.2578_2580delinsGAG ;(p.F860E)

Variant ID: 7-150645956-GAA-CTC

NM_000238.3(KCNH2):c.2578_2580delinsGAG;(p.F860E)

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:

Investigation of PAS and CNBH domain interactions in hERG channels and effects of long-QT syndrome-causing mutations with surface plasmon resonance.

The Journal Of Biological Chemistry
Soohoo, Stephanie M SM; Tiwari, Purushottam B PB; Suzuki, Yuichiro J YJ; Brelidze, Tinatin I TI
Publication Date: 2021-11-18

Variant appearance in text: LQT2: F860E
PubMed Link: 34801551
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page


Investigation of PAS and CNBH domain interactions in hERG channels and effects of long-QT syndrome-causing mutations with surface plasmon resonance.

The Journal Of Biological Chemistry
Soohoo, Stephanie M SM; Tiwari, Purushottam B PB; Suzuki, Yuichiro J YJ; Brelidze, Tinatin I TI
Publication Date: 2022-01

Variant appearance in text: LQT2: F860E
PubMed Link: 34801551
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page