The KIF1B gene homepage

Please note that for this gene nearly all data are still in the LMDp database.
This database is one of the gene variant databases from the:
General information
Gene symbol KIF1B
Gene name kinesin family member 1B
Chromosome 1
Chromosomal band p36.22
Imprinted Unknown
Genomic reference LRG_252
Transcript reference NM_015074.3
Exon/intron information NM_015074.3 exon/intron table
Associated with diseases CMT-2A1, NBLST-1, neuroblastoma, pheochromocytoma
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Lucie Evenepoel and Johan den Dunnen
Total number of public variants reported 129
Unique public DNA variants reported 88
Individuals with public variants 291
Hidden variants 11
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
Date created May 23, 2012
Date last updated September 15, 2020
Version KIF1B:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015074.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 16636
Entrez Gene 23095
PubMed articles KIF1B
OMIM - Gene 605995
OMIM - Diseases CMT-2A1 (Charcot-Marie-Tooth disease, type 2A1 (CMT-2A1))
NBLST-1 (neuroblastoma, susceptibility to, type 1 (NBLST-1))
GeneCards KIF1B
GeneTests KIF1B

Active transcripts




NCBI ID     

NCBI Protein ID     

00010574 1 transcript variant 1 NM_015074.3 NP_055889.2 129

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.