KCNH2 c.1231G>A ;(p.D411N)

Variant ID: 7-150649839-C-T

NM_000238.3(KCNH2):c.1231G>A;(p.D411N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Fast Component of hERG Gating Charge: An Interaction between D411 in the S1 and S4 Residues.

Biophysical Journal
Dou, Ying Y; Macdonald, Logan C LC; Wu, Yue Y; Fedida, David D
Publication Date: 2017-11-07

Variant appearance in text: Kv11.1: D411N
PubMed Link: 29117522
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015

Variant appearance in text: KCNH2: 1231G>A
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page