KIT gene homepage

General information
Gene symbol KIT
Gene name KIT proto-oncogene, receptor tyrosine kinase
Chromosome 4
Chromosomal band q12
Imprinted Unknown
Genomic reference LRG_307
Transcript reference NM_000222.2, NM_001093772.1
Associated with diseases AML, GIST, MASTC, PBT
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 260
Unique public DNA variants reported 71
Individuals with public variants 263
Hidden variants 0
Date created May 20, 2020
Date last updated June 29, 2020
Version KIT:200629

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 6342
Entrez Gene 3815
PubMed articles KIT
OMIM - Gene 164920
OMIM - Diseases AML (Acute Myeloid Leukemia)
GIST (Gastrointestinal stromal tumor)
MASTC (Mastocytosis, cutaneous)
PBT (Piebaldism)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000100 4 v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog, transcript variant 1 NM_000222.2 NP_000213.1 260
00000101 4 v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog, transcript variant 2 NM_001093772.1 NP_001087241.1 260


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 © 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.