KCNQ1 c.776_777delinsAA ;(p.R259Q)

Variant ID: 11-2593335-GC-AA

NM_000218.2(KCNQ1):c.776_777delinsAA;(p.R259Q)

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:

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: R259Q
PubMed Link: 23861489
Variant Present in the following documents:
  • Main text
View BVdb publication page