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ASIC1 c.601_602delinsGC ;(p.R201A)
Variant ID: 12-50471038-CG-GC
NM_001095.3(
ASIC1
):c.601_602delinsGC;(p.R201A)
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:
General rules for the arrangements and gating motions of pore-lining helices in homomeric ion channels.
Nature Communications
Dai, Jian J; Zhou, Huan-Xiang HX
Publication Date: 2014-08-08
Variant appearance in text: ASIC1: R201A
PubMed Link:
25105557
Variant Present in the following documents:
ncomms5641-s1.pdf
View BVdb publication page
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: R201A
PubMed Link:
22493497
Variant Present in the following documents:
Main text
View BVdb publication page