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NSF c.1732G>C ;(p.E578Q)
Variant ID: 17-44791323-G-C
NM_006178.3(
NSF
):c.1732G>C;(p.E578Q)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Ubiquitin- and ATP-dependent unfoldase activity of P97/VCP•NPLOC4•UFD1L is enhanced by a mutation that causes multisystem proteinopathy.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Blythe, Emily E EE; Olson, Kristine C KC; Chau, Vincent V; Deshaies, Raymond J RJ
Publication Date: 2017-05-30
Variant appearance in text: NSF: E578Q
PubMed Link:
28512218
Variant Present in the following documents:
Main text
View BVdb publication page
Inter-ring rotations of AAA ATPase p97 revealed by electron cryomicroscopy.
Open Biology
Yeung, Heidi O HO; Förster, Andreas A; Bebeacua, Cecilia C; Niwa, Hajime H; Ewens, Caroline C; McKeown, Ciarán C; Zhang, Xiaodong X; Freemont, Paul S PS
Publication Date: 2014-03-05
Variant appearance in text: NSF: E578Q
PubMed Link:
24598262
Variant Present in the following documents:
Main text
View BVdb publication page
Cdc2 kinase-dependent disassembly of endoplasmic reticulum (ER) exit sites inhibits ER-to-Golgi vesicular transport during mitosis.
Molecular Biology Of The Cell
Kano, Fumi F; Tanaka, Arowu R AR; Yamauchi, Shinobu S; Kondo, Hisao H; Murata, Masayuki M
Publication Date: 2004-09
Variant appearance in text: NSF: E578Q
PubMed Link:
15254263
Variant Present in the following documents:
Main text
View BVdb publication page
Distinct roles for the AAA ATPases NSF and p97 in the secretory pathway.
Molecular Biology Of The Cell
Dalal, Seema S; Rosser, Meredith F N MF; Cyr, Douglas M DM; Hanson, Phyllis I PI
Publication Date: 2004-02
Variant appearance in text: NSF: E578Q
PubMed Link:
14617820
Variant Present in the following documents:
Main text
View BVdb publication page