KCNQ1 c.379_380delinsGC ;(p.F127A)

Variant ID: 11-2466707-TT-GC

NM_000218.2(KCNQ1):c.379_380delinsGC;(p.F127A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Optimized tight binding between the S1 segment and KCNE3 is required for the constitutively open nature of the KCNQ1-KCNE3 channel complex.

Elife
Kasuya, Go G; Nakajo, Koichi K
Publication Date: 2022-11-04

Variant appearance in text: KCNQ1: F127A
PubMed Link: 36331187
Variant Present in the following documents:
  • Main text
  • elife-81683.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: F127A
PubMed Link: 32015334
Variant Present in the following documents:
  • 41467_2020_Article_14406.pdf
  • 41467_2020_14406_MOESM1_ESM.pdf
View BVdb publication page



KCNQ1 subdomains involved in KCNE modulation revealed by an invertebrate KCNQ1 orthologue.

The Journal Of General Physiology
Nakajo, Koichi K; Nishino, Atsuo A; Okamura, Yasushi Y; Kubo, Yoshihiro Y
Publication Date: 2011-11

Variant appearance in text: KCNQ1: F127A
PubMed Link: 22042987
Variant Present in the following documents:
  • Main text
  • JGP_201110677.pdf
View BVdb publication page