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KCNQ1 c.793A>G ;(p.T265A)
Variant ID: 11-2594088-A-G
NM_000218.2(
KCNQ1
):c.793A>G;(p.T265A)
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:
Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.
Nature Communications
Hou, Panpan P; Kang, Po Wei PW; Kongmeneck, Audrey Deyawe AD; Yang, Nien-Du ND; Liu, Yongfeng Y; Shi, Jingyi J; Xu, Xianjin X; White, Kelli McFarland KM; Zaydman, Mark A MA; Kasimova, Marina A MA; Seebohm, Guiscard G; Zhong, Ling L; Zou, Xiaoqin X; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2020-02-03
Variant appearance in text: KCNQ1: T265A
PubMed Link:
32015334
Variant Present in the following documents:
41467_2020_14406_MOESM1_ESM.pdf
View BVdb publication page
Characteristics and molecular basis of celecoxib modulation on K(v)7 potassium channels.
British Journal Of Pharmacology
Du, X N XN; Zhang, X X; Qi, J L JL; An, H L HL; Li, J W JW; Wan, Y M YM; Fu, Y Y; Gao, H X HX; Gao, Z B ZB; Zhan, Y Y; Zhang, H L HL
Publication Date: 2011-11
Variant appearance in text: Kv7.1: T265A
PubMed Link:
21564087
Variant Present in the following documents:
Main text
View BVdb publication page
Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.
Biophysical Journal
Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V
Publication Date: 2011-02-16
Variant appearance in text: KCNQ1: T265A
PubMed Link:
21320432
Variant Present in the following documents:
Main text
View BVdb publication page