KCNQ1 c.878_879delinsAA ;(p.R293Q)

Variant ID: 11-2594173-GC-AA

NM_000218.2(KCNQ1):c.878_879delinsAA;(p.R293Q)

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:

ML277 regulates KCNQ1 single-channel amplitudes and kinetics, modified by voltage sensor state.

The Journal Of General Physiology
Eldstrom, Jodene J; McAfee, Donald A DA; Dou, Ying Y; Wang, Yundi Y; Fedida, David D
Publication Date: 2021-12-06

Variant appearance in text: KCNQ1: R293Q
PubMed Link: 34636894
Variant Present in the following documents:
  • Main text
  • JGP_202112969.pdf
View BVdb publication page