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KCNH2 c.1936_1937inv ;(p.L646S)
Variant ID: 7-150648544-AG-CT
NM_000238.3(
KCNH2
):c.1936_1937inv;(p.L646S)
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:
Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.
The Journal Of Biological Chemistry
Perry, Matthew D MD; Ng, Chai Ann CA; Vandenberg, Jamie I JI
Publication Date: 2013-04-19
Variant appearance in text: Kv11.1: L646S
PubMed Link:
23471968
Variant Present in the following documents:
Main text
View BVdb publication page