GATA2 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

GATA2 (GATA binding protein 2)

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

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GATA2 gene homepage

General information
Gene symbol	GATA2
Gene name	GATA binding protein 2
Chromosome	3
Chromosomal band	q21.3
Imprinted	Unknown
Genomic reference	LRG_295
Transcript reference	NM_001145661.1, NM_001145662.1, NM_032638.4
Associated with diseases	AML, EmbS, IMD21
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	46
Unique public DNA variants reported	31
Individuals with public variants	53
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 20, 2020
Version	GATA2:200520

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	4171
Entrez Gene	2624
PubMed articles	GATA2
OMIM - Gene	137295
OMIM - Diseases	AML (Acute Myeloid Leukemia) EmbS (Emberger syndrome) IMD21 (Immunodeficiency 21)

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
00000089	3	transcript variant 1	NM_001145661.1	NP_001139133.1	46
00000090	3	transcript variant 2	NM_032638.4	NP_116027.2	46
00000091	3	transcript variant 3	NM_001145662.1	NP_001139134.1	46

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