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




NCBI ID     

NCBI Protein ID     

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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