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KCNH2 c.1634A>T ;(p.Y545F)
Variant ID: 7-150648847-T-A
NM_000238.3(
KCNH2
):c.1634A>T;(p.Y545F)
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:
Tyrosine Residues from the S4-S5 Linker of Kv11.1 Channels Are Critical for Slow Deactivation.
The Journal Of Biological Chemistry
Ng, Chai-Ann CA; Gravel, Andrée E AE; Perry, Matthew D MD; Arnold, Alexandre A AA; Marcotte, Isabelle I; Vandenberg, Jamie I JI
Publication Date: 2016-08-12
Variant appearance in text: Kv11.1: Y545F
PubMed Link:
27317659
Variant Present in the following documents:
Main text
View BVdb publication page