KCNQ1 c.388_389delinsGC ;(p.F130A)

Variant ID: 11-2549159-TT-GC

NM_000218.2(KCNQ1):c.388_389delinsGC;(p.F130A)

This variant was identified in 2 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: F130A
PubMed Link: 36331187
Variant Present in the following documents:
  • Main text
  • elife-81683.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: F130A
PubMed Link: 22042987
Variant Present in the following documents:
  • Main text
  • JGP_201110677.pdf
View BVdb publication page