KCNQ1 c.1069_1070inv ;(p.Q357W)

Variant ID: 11-2606478-CA-TG

NM_000218.2(KCNQ1):c.1069_1070inv;(p.Q357W)

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:

Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology
Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB
Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: Q357W
PubMed Link: 34907346
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2909.pdf
View BVdb publication page


Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology
Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB
Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: Q357W
PubMed Link: 34907346
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2909.pdf
View BVdb publication page