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KCNQ1 c.1053T>A ;(p.F351L)
Variant ID: 11-2606462-T-A
NM_000218.2(
KCNQ1
):c.1053T>A;(p.F351L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09
Variant appearance in text: KCNQ1: F351L
PubMed Link:
34503567
Variant Present in the following documents:
13073_2021_964_MOESM6_ESM.xlsx, sheet 1
13073_2021_964_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: KCNQ1: F351L
PubMed Link:
32431610
Variant Present in the following documents:
Main text
Table_1.xlsx, sheet 1
fphar-11-00550.pdf
View BVdb publication page
Fatty acid analogue N-arachidonoyl taurine restores function of IKs channels with diverse long QT mutations.
Elife
Liin, Sara I SI; Larsson, Johan E JE; Barro-Soria, Rene R; Bentzen, Bo Hjorth BH; Larsson, H Peter HP
Publication Date: 2016-09-30
Variant appearance in text: KCNQ1: F351L
PubMed Link:
27690226
Variant Present in the following documents:
Main text
View BVdb publication page