RecName: Full=Histone-lysine N-methyltransferase, H3 lysine-36 specifi - Protein

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Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome. [BMC Med Genomics. 2024]
Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.
Ren Z, Yue L, Hu HY, Hou XL, Chen WQ, Tan Y, Dong Z, Zhang J. BMC Med Genomics. 2024 Apr 29; 17(1):116. Epub 2024 Apr 29.
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature. [Endocr J. 2024]
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.
Masunaga Y, Ono H, Fujisawa Y, Taniguchi K, Saitsu H, Ogata T. Endocr J. 2024 Jan 29; 71(1):75-81. Epub 2023 Nov 22.
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome. [Genes (Basel). 2023]
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.
Testa B, Conteduca G, Grasso M, Cecconi M, Lantieri F, Baldo C, Arado A, Andraghetti L, Malacarne M, Milani D, et al. Genes (Basel). 2023 Jan 22; 14(2). Epub 2023 Jan 22.

RefSeq genomic sequence
See the genomic reference sequence for the NSD1 gene (NG_009821.1).
RefSeq protein isoforms
See 12 reference sequence protein isoforms for the NSD1 gene.

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Q96L73 [Domain Mapping of Disease Mut...]
Q96L73
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Histone-lysine N-methyltransferase, H3 lysine-36 specific; AltName...
RecName: Full=Histone-lysine N-methyltransferase, H3 lysine-36 specific; AltName: Full=Androgen receptor coactivator 267 kDa protein; AltName: Full=Androgen receptor-associated protein of 267 kDa; AltName: Full=H3-K36-HMTase; AltName: Full=Lysine N-methyltransferase 3B; AltName: Full=Nuclear receptor-binding SET domain-containing protein 1; Short=NR-binding SET domain-containing protein
gi|32469769|sp|Q96L73.1|NSD1_HUMAN

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