KCNH2 c.1607C>T ;(p.A536V)

Variant ID: 7-150648874-G-A

NM_000238.3(KCNH2):c.1607C>T;(p.A536V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: KCNH2: A536V
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



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: A536V
PubMed Link: 29117522
Variant Present in the following documents:
  • Main text
View BVdb publication page