KCNH2 c.1999_2000delinsCC ;(p.Y667P)

Variant ID: 7-150648154-TA-GG

NM_000238.3(KCNH2):c.1999_2000delinsCC;(p.Y667P)

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:

Proline scan of the HERG channel S6 helix reveals the location of the intracellular pore gate.

Biophysical Journal
Thouta, Samrat S; Sokolov, Stanislav S; Abe, Yuki Y; Clark, Sheldon J SJ; Cheng, Yen M YM; Claydon, Tom W TW
Publication Date: 2014-03-04

Variant appearance in text: HERG: Y667P
PubMed Link: 24606930
Variant Present in the following documents:
  • Main text
View BVdb publication page