KCNQ1 c.733G>A ;(p.G245R)

Variant ID: 11-2593292-G-A

NM_000218.2(KCNQ1):c.733G>A;(p.G245R)

This variant was identified in 4 publications

View GRCh38 version.




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: 733G>A; Gly245Arg
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Pharmacogenomics in drug-induced cardiotoxicity: Current status and the future.

Frontiers In Cardiovascular Medicine
Li, Mo-Yun MY; Peng, Li-Ming LM; Chen, Xiao-Ping XP
Publication Date: 2022

Variant appearance in text: KCNQ1: 733G>A
PubMed Link: 36312261
Variant Present in the following documents:
  • Main text
  • fcvm-09-966261.pdf
  • Table_1.pdf
View BVdb publication page



A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology
Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE
Publication Date: 2020-08

Variant appearance in text: KCNQ1: G245R
PubMed Link: 32797034
Variant Present in the following documents:
  • Main text
  • pcbi.1008109.pdf
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: KCNQ1: G245R
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 27
View BVdb publication page