KCNQ1 c.1105C>G ;(p.P369A)

Variant ID: 11-2606514-C-G

NM_000218.2(KCNQ1):c.1105C>G;(p.P369A)

This variant was identified in 3 publications

View GRCh38 version.



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

Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 1105C>G; Pro369Ala
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
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: P369A
PubMed Link: 33310856
Variant Present in the following documents:
  • abd6798_SM.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: P369A
PubMed Link: 33310856
Variant Present in the following documents:
  • supp_6_50_eabd6798__1.pdf
  • abd6798_SM.pdf
View BVdb publication page


Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: KCNQ1: 1105C>G; Pro369Ala
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page