NSF c.380_381delinsGG ;(p.N127R)

Variant ID: 17-44714883-AC-GG

NM_006178.3(NSF):c.380_381delinsGG;(p.N127R)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Mutation effects predicted from sequence co-variation.

Nature Biotechnology
Hopf, Thomas A TA; Ingraham, John B JB; Poelwijk, Frank J FJ; Schärfe, Charlotta P I CP; Springer, Michael M; Sander, Chris C; Marks, Debora S DS
Publication Date: 2017-02

Variant appearance in text: NSF: N127R
PubMed Link: 28092658
Variant Present in the following documents:
  • Main text
View BVdb publication page