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KCNQ1 c.976A>C ;(p.K326Q)
Variant ID: 11-2604719-A-C
NM_000218.2(
KCNQ1
):c.976A>C;(p.K326Q)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Polyunsaturated fatty acids produce a range of activators for heterogeneous IKs channel dysfunction.
The Journal Of General Physiology
Bohannon, Briana M BM; Wu, Xiaoan X; Wu, Xiongyu X; Perez, Marta E ME; Liin, Sara I SI; Larsson, H Peter HP
Publication Date: 2020-02-03
Variant appearance in text: Kv7.1: K326Q
PubMed Link:
31865382
Variant Present in the following documents:
Main text
JGP_201912396.pdf
View BVdb publication page
Mechanisms Underlying the Dual Effect of Polyunsaturated Fatty Acid Analogs on Kv7.1.
Cell Reports
Liin, Sara I SI; Yazdi, Samira S; Ramentol, Rosamary R; Barro-Soria, Rene R; Larsson, H Peter HP
Publication Date: 2018-09-11
Variant appearance in text: Kv7.1: K326Q
PubMed Link:
30208316
Variant Present in the following documents:
Main text
View BVdb publication page