KCNQ1 c.1078_1079delinsGC ;(p.R360A)

Variant ID: 11-2606487-AG-GC

NM_000218.2(KCNQ1):c.1078_1079delinsGC;(p.R360A)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.

Experimental & Molecular Medicine
Lee, Sang-Yeon SY; Choi, Hyun Been HB; Park, Mina M; Choi, Il Soon IS; An, Jieun J; Kim, Ami A; Kim, Eunku E; Kim, Nahyun N; Han, Jin Hee JH; Kim, Min Young MY; Lee, Seung Min SM; Oh, Doo-Yi DY; Kim, Bong Jik BJ; Yi, Nayoung N; Kim, Nayoung K D NKD; Lee, Chung C; Park, Woong-Yang WY; Koh, Young Ik YI; Gee, Heon Yung HY; Cho, Hyun Sung HS; Kang, Tong Mook TM; Choi, Byung Yoon BY
Publication Date: 2021-07

Variant appearance in text: KCNQ1: Arg360Ala
PubMed Link: 34316018
Variant Present in the following documents:
  • Main text
  • 12276_2021_Article_653.pdf
View BVdb publication page



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: R360A
PubMed Link: 32015334
Variant Present in the following documents:
  • 41467_2020_14406_MOESM1_ESM.pdf
  • 41467_2020_Article_14406.pdf
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Phosphatidylinositol-4,5-bisphosphate is required for KCNQ1/KCNE1 channel function but not anterograde trafficking.

Plos One
Royal, Alice A AA; Tinker, Andrew A; Harmer, Stephen C SC
Publication Date: 2017

Variant appearance in text: KCNQ1: R360A
PubMed Link: 29020060
Variant Present in the following documents:
  • Main text
  • pone.0186293.pdf
View BVdb publication page



Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.

Scientific Reports
Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; Mosca, Ilaria I; De Maria, Michela M; Moretto, Edoardo E; Miceli, Francesco F; Alaimo, Alessandro A; Iraci, Nunzio N; Manocchio, Laura L; Medoro, Alessandro A; Passafaro, Maria M; Taglialatela, Maurizio M
Publication Date: 2016-12-01

Variant appearance in text: Kv7.1: R360A
PubMed Link: 27905566
Variant Present in the following documents:
  • Main text
  • srep38167.pdf
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A basic residue in the proximal C-terminus is necessary for efficient activation of the M-channel subunit Kv7.2 by PI(4,5)P₂.

Pflugers Archiv : European Journal Of Physiology
Telezhkin, Vsevolod V; Thomas, Alison M AM; Harmer, Stephen C SC; Tinker, Andrew A; Brown, David A DA
Publication Date: 2013-07

Variant appearance in text: Kv7.1: R360A
PubMed Link: 23291709
Variant Present in the following documents:
  • Main text
  • 424_2012_Article_1199.pdf
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An allosteric mechanism for drug block of the human cardiac potassium channel KCNQ1.

Molecular Pharmacology
Yang, Tao T; Smith, Jarrod A JA; Leake, Brenda F BF; Sanders, Charles R CR; Meiler, Jens J; Roden, Dan M DM
Publication Date: 2013-02

Variant appearance in text: KCNQ1: R360A
PubMed Link: 23193163
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of a binding site for anionic phospholipids on KCNQ1.

The Journal Of Biological Chemistry
Thomas, Alison M AM; Harmer, Stephen C SC; Khambra, Tapsi T; Tinker, Andrew A
Publication Date: 2011-01-21

Variant appearance in text: KCNQ1: R360A
PubMed Link: 21084310
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of the S6 C-terminus in KCNQ1 channel gating.

The Journal Of Physiology
Boulet, Inge R IR; Labro, Alain J AJ; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2007-12-01

Variant appearance in text: KCNQ1: R360A
PubMed Link: 17932138
Variant Present in the following documents:
  • Main text
View BVdb publication page