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ASIC1 c.610_611delinsGC ;(p.R204A)
Variant ID: 12-50471047-CG-GC
NM_001095.3(
ASIC1
):c.610_611delinsGC;(p.R204A)
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
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dbSNP
Publications:
Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9).
The Journal Of Biological Chemistry
Sharotri, Vikas V; Collier, Daniel M DM; Olson, Diane R DR; Zhou, Ruifeng R; Snyder, Peter M PM
Publication Date: 2012-06-01
Variant appearance in text: ASIC1: R204A
PubMed Link:
22493497
Variant Present in the following documents:
Main text
View BVdb publication page
Alternative mechanism of activation of the epithelial na+ channel by cleavage.
The Journal Of Biological Chemistry
Hu, John Cong JC; Bengrine, Abderrahmane A; Lis, Agnieszka A; Awayda, Mouhamed S MS
Publication Date: 2009-12-25
Variant appearance in text: ASIC1: R204A
PubMed Link:
19858199
Variant Present in the following documents:
Main text
View BVdb publication page