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KCNQ1 c.643_645delinsTGT ;(p.V215C)
Variant ID: 11-2592593-GTG-TGT
NM_000218.2(
KCNQ1
):c.643_645delinsTGT;(p.V215C)
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:
Mechanisms of noncovalent β subunit regulation of NaV channel gating.
The Journal Of General Physiology
Zhu, Wandi W; Voelker, Taylor L TL; Varga, Zoltan Z; Schubert, Angela R AR; Nerbonne, Jeanne M JM; Silva, Jonathan R JR
Publication Date: 2017-08-07
Variant appearance in text: KCNQ1: V215C
PubMed Link:
28720590
Variant Present in the following documents:
Main text
JGP_201711802.pdf
View BVdb publication page