KCNQ1 c.575_576delinsAA ;(p.R192Q)

Variant ID: 11-2591955-GC-AA

NM_000218.2(KCNQ1):c.575_576delinsAA;(p.R192Q)

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: KCNQ1: R192Q
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page



Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zaydman, Mark A MA; Silva, Jonathan R JR; Delaloye, Kelli K; Li, Yang Y; Liang, Hongwu H; Larsson, H Peter HP; Shi, Jingyi J; Cui, Jianmin J
Publication Date: 2013-08-06

Variant appearance in text: Kv7.1: R192Q
PubMed Link: 23861489
Variant Present in the following documents:
  • Main text
View BVdb publication page