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KCNQ1 c.121_123delinsTTT ;(p.A41F)
Variant ID: 11-2466449-GCG-TTT
NM_000218.2(
KCNQ1
):c.121_123delinsTTT;(p.A41F)
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:
Association of KCNQ1rs2237892C⟶T Gene with Type 2 Diabetes Mellitus: A Meta-Analysis.
Journal Of Diabetes Research
Han, Wen-Jia WJ; Deng, Jian-Yi JY; Jin, Hua H; Yin, Li-Ping LP; Yang, Jin-Xia JX; Sun, Jiang-Jie JJ
Publication Date: 2021
Variant appearance in text: KCNQ1: A41F
PubMed Link:
34853793
Variant Present in the following documents:
Main text
View BVdb publication page
Conformational equilibrium shift underlies altered K+ channel gating as revealed by NMR.
Nature Communications
Iwahashi, Yuta Y; Toyama, Yuki Y; Imai, Shunsuke S; Itoh, Hiroaki H; Osawa, Masanori M; Inoue, Masayuki M; Shimada, Ichio I
Publication Date: 2020-10-14
Variant appearance in text: Kv7.1: A41F
PubMed Link:
33057011
Variant Present in the following documents:
Main text
View BVdb publication page