KCNQ1 c.1249G>A ;(p.V417M)

Variant ID: 11-2608920-G-A

NM_000218.2(KCNQ1):c.1249G>A;(p.V417M)

This variant was identified in 6 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: 1249G>A; Val417Met
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.

Plos One
Jalily Hasani, Horia H; Ganesan, Aravindhan A; Ahmed, Marawan M; Barakat, Khaled H KH
Publication Date: 2018

Variant appearance in text: KCNQ1: V417M
PubMed Link: 29444113
Variant Present in the following documents:
  • pone.0191905.s001.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: LQT1: V417M
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: KCNQ1: V417M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.

Journal Of Cardiovascular Translational Research
Kapplinger, Jamie D JD; Tseng, Andrew S AS; Salisbury, Benjamin A BA; Tester, David J DJ; Callis, Thomas E TE; Alders, Marielle M; Wilde, Arthur A M AA; Ackerman, Michael J MJ
Publication Date: 2015-04

Variant appearance in text: KCNQ1: V417M
PubMed Link: 25854863
Variant Present in the following documents:
  • Main text
View BVdb publication page



PATH-SCAN: a reporting tool for identifying clinically actionable variants.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Daneshjou, Roxana R; Zappala, Zachary Z; Kukurba, Kim K; Boyle, Sean M SM; Ormond, Kelly E KE; Klein, Teri E TE; Snyder, Michael M; Bustamante, Carlos D CD; Altman, Russ B RB; Montgomery, Stephen B SB
Publication Date: 2014

Variant appearance in text: rs267607197
PubMed Link: 24297550
Variant Present in the following documents:
  • Main text
View BVdb publication page