KCNQ1 c.970_971delinsTG ;(p.V324C)

Variant ID: 11-2604713-GT-TG

NM_000218.2(KCNQ1):c.970_971delinsTG;(p.V324C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.

Gene
Abbott, Geoffrey W GW
Publication Date: 2016-01-15

Variant appearance in text: KCNQ1: V324C
PubMed Link: 26410412
Variant Present in the following documents:
  • Main text
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: V324C
PubMed Link: 22042987
Variant Present in the following documents:
  • Main text
  • JGP_201110677.pdf
View BVdb publication page



Location of KCNE1 relative to KCNQ1 in the I(KS) potassium channel by disulfide cross-linking of substituted cysteines.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chung, David Y DY; Chan, Priscilla J PJ; Bankston, John R JR; Yang, Lin L; Liu, Guoxia G; Marx, Steven O SO; Karlin, Arthur A; Kass, Robert S RS
Publication Date: 2009-01-20

Variant appearance in text: KCNQ1: V324C
PubMed Link: 19131515
Variant Present in the following documents:
  • Main text
View BVdb publication page