KCNH2 c.1862G>T ;(p.S621I)

Variant ID: 7-150648619-C-A

NM_000238.3(KCNH2):c.1862G>T;(p.S621I)

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:

Interactions of H562 in the S5 helix with T618 and S621 in the pore helix are important determinants of hERG1 potassium channel structure and function.

Biophysical Journal
Lees-Miller, James P JP; Subbotina, Julia O JO; Guo, Jiqing J; Yarov-Yarovoy, Vladimir V; Noskov, Sergei Y SY; Duff, Henry J HJ
Publication Date: 2009-05-06

Variant appearance in text: HERG: S621I
PubMed Link: 19413965
Variant Present in the following documents:
  • Main text
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