KCNH2 c.2419G>A ;(p.E807K)

Variant ID: 7-150646117-C-T

NM_000238.3(KCNH2):c.2419G>A;(p.E807K)

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:

Structure of KCNH2 cyclic nucleotide-binding homology domain reveals a functionally vital salt-bridge.

The Journal Of General Physiology
Ben-Bassat, Ariel A; Giladi, Moshe M; Haitin, Yoni Y
Publication Date: 2020-04-06

Variant appearance in text: KCNH2: E807K
PubMed Link: 32191791
Variant Present in the following documents:
  • Main text
  • JGP_201912505.pdf
View BVdb publication page