KCNH2 c.2516T>C ;(p.L839P)

Variant ID: 7-150646020-A-G

NM_000238.3(KCNH2):c.2516T>C;(p.L839P)

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:

Zfhx3 Transcription Factor Represses the Expression of SCN5A Gene and Decreases Sodium Current Density (INa).

International Journal Of Molecular Sciences
Rubio-Alarcón, Marcos M; Cámara-Checa, Anabel A; Dago, María M; Crespo-García, Teresa T; Nieto-Marín, Paloma P; Marín, María M; Merino, José Luis JL; Toquero, Jorge J; Salguero-Bodes, Rafael R; Tamargo, Juan J; Cebrián, Jorge J; Delpón, Eva E; Caballero, Ricardo R
Publication Date: 2021-12-02

Variant appearance in text: KCNH2: L839P
PubMed Link: 34884836
Variant Present in the following documents:
  • ijms-22-13031.pdf
View BVdb publication page


Zfhx3 Transcription Factor Represses the Expression of SCN5A Gene and Decreases Sodium Current Density (INa).

International Journal Of Molecular Sciences
Rubio-Alarcón, Marcos M; Cámara-Checa, Anabel A; Dago, María M; Crespo-García, Teresa T; Nieto-Marín, Paloma P; Marín, María M; Merino, José Luis JL; Toquero, Jorge J; Salguero-Bodes, Rafael R; Tamargo, Juan J; Cebrián, Jorge J; Delpón, Eva E; Caballero, Ricardo R
Publication Date: 2021-12-02

Variant appearance in text: KCNH2: L839P
PubMed Link: 34884836
Variant Present in the following documents:
  • ijms-22-13031.pdf
View BVdb publication page