NPC1 c.3283_3285del ;(p.I1095del)

Variant ID: 18-21115625-CAAT-C

NM_000271.4(NPC1):c.3283_3285del;(p.I1095del)

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:

Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control.

Journal Of Lipid Research
Klünder, Sarah S; Heeren, Jörg J; Markmann, Sandra S; Santer, René R; Braulke, Thomas T; Pohl, Sandra S
Publication Date: 2015-08

Variant appearance in text: NPC1: I1095del
PubMed Link: 26108224
Variant Present in the following documents:
  • Main text
View BVdb publication page