PSEN1 c.553_554delinsTG ;(p.V185W)

Variant ID: 14-73659356-GT-TG

NM_000021.3(PSEN1):c.553_554delinsTG;(p.V185W)

This variant was identified in 1 publication

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: S182: V185W
PubMed Link: 33310856
Variant Present in the following documents:
  • abd6798.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: S182: V185W
PubMed Link: 33310856
Variant Present in the following documents:
  • abd6798.pdf
View BVdb publication page