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KCNH2 c.1958C>T ;(p.A653V)
Variant ID: 7-150648196-G-A
NM_000238.3(
KCNH2
):c.1958C>T;(p.A653V)
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:
The evolutionarily conserved residue A653 plays a key role in HERG channel closing.
The Journal Of Physiology
Stepanovic, Svetlana Z SZ; Potet, Franck F; Petersen, Christina I CI; Smith, Jarrod A JA; Meiler, Jens J; Balser, Jeffrey R JR; Kupershmidt, Sabina S
Publication Date: 2009-06-01
Variant appearance in text: HERG: A653V
PubMed Link:
19406877
Variant Present in the following documents:
Main text
View BVdb publication page
A highly conserved alanine in the S6 domain of the hERG1 K+ channel is required for normal gating.
Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology
Brown, Scott S; Sonntag, David P DP; Sanguinetti, Michael C MC
Publication Date: 2008
Variant appearance in text: KCNH2: A653V
PubMed Link:
19088442
Variant Present in the following documents:
Main text
View BVdb publication page