KIT gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

KIT (KIT proto-oncogene, receptor tyrosine kinase)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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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	267
Unique public DNA variants reported	71
Individuals with public variants	272
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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000100	4	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog, transcript variant 1	NM_000222.2	NP_000213.1	267
00000101	4	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog, transcript variant 2	NM_001093772.1	NP_001087241.1	267

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