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NSF c.299A>C ;(p.D100A)
Variant ID: 17-44714802-A-C
NM_006178.3(
NSF
):c.299A>C;(p.D100A)
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:
Ornate, large, extremophilic (OLE) RNA forms a kink turn necessary for OapC protein recognition and RNA function.
The Journal Of Biological Chemistry
Lyon, Seth E SE; Harris, Kimberly A KA; Odzer, Nicole B NB; Wilkins, Sarah G SG; Breaker, Ronald R RR
Publication Date: 2022-11-03
Variant appearance in text: NSF: D100A
PubMed Link:
36336078
Variant Present in the following documents:
main.pdf
View BVdb publication page
NSF binds calcium to regulate its interaction with AMPA receptor subunit GluR2.
Journal Of Neurochemistry
Hanley, Jonathan G JG
Publication Date: 2007-06
Variant appearance in text: NSF: D100A
PubMed Link:
17302911
Variant Present in the following documents:
Main text
View BVdb publication page