NSD1 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

NSD1 (nuclear receptor binding SET domain protein 1)

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

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NSD1 gene homepage

General information
Gene symbol	NSD1
Gene name	nuclear receptor binding SET domain protein 1
Chromosome	5
Chromosomal band	q35.3
Imprinted	Unknown
Genomic reference	LRG_512
Transcript reference	NM_022455.4, NM_172349.2
Associated with diseases	AML, SOTOS1
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	312
Unique public DNA variants reported	113
Individuals with public variants	352
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 16, 2022
Version	NSD1:220516

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	14234
Entrez Gene	64324
PubMed articles	NSD1
OMIM - Gene	606681
OMIM - Diseases	AML (Acute Myeloid Leukemia) SOTOS1 (Sotos syndrome 1)

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000154	5	transcript variant 1	NM_172349.2	NP_758859.1	312
00000155	5	transcript variant 2	NM_022455.4	NP_071900.2	312

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