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KCNH2 c.593T>A ;(p.V198E)
Variant ID: 7-150655470-A-T
NM_000238.3(
KCNH2
):c.593T>A;(p.V198E)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Synonymous nucleotide modification of the KCNH2 gene affects both mRNA characteristics and translation of the encoded hERG ion channel.
The Journal Of Biological Chemistry
Bertalovitz, Alexander C AC; Badhey, Marika L Osterbur MLO; McDonald, Thomas V TV
Publication Date: 2018-08-03
Variant appearance in text: KCNH2: V198E
PubMed Link:
29907571
Variant Present in the following documents:
Main text
View BVdb publication page
Express with caution: Epitope tags and cDNA variants effects on hERG channel trafficking, half-life and function.
Journal Of Cardiovascular Electrophysiology
Osterbur Badhey, Marika L ML; Bertalovitz, Alexander C AC; McDonald, Thomas V TV
Publication Date: 2017-09
Variant appearance in text: KCNH2: V198E
PubMed Link:
28544109
Variant Present in the following documents:
Main text
View BVdb publication page