NSF c.1820G>A ;(p.R607K)

Variant ID: 17-44803973-G-A

NM_006178.3(NSF):c.1820G>A;(p.R607K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: NSF: 1820G>A; Arg607Gln
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Molecular snapshots of the Pex1/6 AAA+ complex in action.

Nature Communications
Ciniawsky, Susanne S; Grimm, Immanuel I; Saffian, Delia D; Girzalsky, Wolfgang W; Erdmann, Ralf R; Wendler, Petra P
Publication Date: 2015-06-12

Variant appearance in text: NSF: R607K
PubMed Link: 26066397
Variant Present in the following documents:
  • Main text
View BVdb publication page



Type II spiral ganglion afferent neurons drive medial olivocochlear reflex suppression of the cochlear amplifier.

Nature Communications
Froud, Kristina E KE; Wong, Ann Chi Yan AC; Cederholm, Jennie M E JM; Klugmann, Matthias M; Sandow, Shaun L SL; Julien, Jean-Pierre JP; Ryan, Allen F AF; Housley, Gary D GD
Publication Date: 2015-05-12

Variant appearance in text: NSF: R607K
PubMed Link: 25965946
Variant Present in the following documents:
  • ncomms8115-s1.pdf
View BVdb publication page