KCNH2 c.1955A>T ;(p.Y652F)

Variant ID: 7-150648199-T-A

NM_000238.3(KCNH2):c.1955A>T;(p.Y652F)

This variant was identified in 5 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Histidine at position 462 determines the low quinine sensitivity of ether-à-go-go channel superfamily member Kv 12.1.

British Journal Of Pharmacology
Dierich, Marlen M; van Ham, Willem B WB; Stary-Weinzinger, Anna A; Leitner, Michael G MG
Publication Date: 2019-08

Variant appearance in text: KCNH2: Y652F
PubMed Link: 31032878
Variant Present in the following documents:
  • Main text
  • BPH-176-2708.pdf
View BVdb publication page


Probing the molecular basis of hERG drug block with unnatural amino acids.

Scientific Reports
Macdonald, Logan C LC; Kim, Robin Y RY; Kurata, Harley T HT; Fedida, David D
Publication Date: 2018-01-10

Variant appearance in text: LQT2: Y652F
PubMed Link: 29321549
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_18448.pdf
View BVdb publication page


Mechanism of inhibition of mouse Slo3 (KCa 5.1) potassium channels by quinine, quinidine and barium.

British Journal Of Pharmacology
Wrighton, David C DC; Muench, Stephen P SP; Lippiat, Jonathan D JD
Publication Date: 2015-09

Variant appearance in text: HERG: Y652F
PubMed Link: 26045093
Variant Present in the following documents:
  • Main text
  • bph0172-4355.pdf
View BVdb publication page


In silico analysis of conformational changes induced by mutation of aromatic binding residues: consequences for drug binding in the hERG K+ channel.

Plos One
Knape, Kirsten K; Linder, Tobias T; Wolschann, Peter P; Beyer, Anton A; Stary-Weinzinger, Anna A
Publication Date: 2011

Variant appearance in text: HERG: Y652F
PubMed Link: 22194911
Variant Present in the following documents:
  • Main text
  • pone.0028778.pdf
View BVdb publication page


A structural basis for drug-induced long QT syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Mitcheson, J S JS; Chen, J J; Lin, M M; Culberson, C C; Sanguinetti, M C MC
Publication Date: 2000-10-24

Variant appearance in text: HERG: Y652F
PubMed Link: 11005845
Variant Present in the following documents:
  • Main text
View BVdb publication page