KCNQ1 c.547_548delinsGC ;(p.K183A)

Variant ID: 11-2591927-AA-GC

NM_000218.2(KCNQ1):c.547_548delinsGC;(p.K183A)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances
Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J
Publication Date: 2020-12

Variant appearance in text: KCNQ1: K183A
PubMed Link: 33310856
Variant Present in the following documents:
  • abd6798_SM.pdf
  • abd6798.pdf
  • supp_6_50_eabd6798__1.pdf
View BVdb publication page


Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances
Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J
Publication Date: 2020-12

Variant appearance in text: KCNQ1: K183A
PubMed Link: 33310856
Variant Present in the following documents:
  • abd6798.pdf
  • abd6798_SM.pdf
  • supp_6_50_eabd6798__1.pdf
View BVdb publication page