SH2B adapter protein 1 isoform 2 [Homo sapiens]

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Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease. [Cell Rep Med. 2023]
Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.
Hanssen R, Auwerx C, Jõeloo M, Sadler MC, Estonian Biobank Research Team, Henning E, Keogh J, Bounds R, Smith M, Firth HV, et al. Cell Rep Med. 2023 Aug 15; 4(8):101155.
SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort. [Eat Weight Disord. 2022]
SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.
da Fonseca ACP, Assis ISS, Salum KCR, Palhinha L, Abreu GM, Zembrzuski VM, Campos Junior M, Nogueira Neto JF, Mattos FCC, Cambraia A, et al. Eat Weight Disord. 2022 Dec; 27(8):3665-3674. Epub 2022 Nov 27.
Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion. [Horm Res Paediatr. 2022]
Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.
Giannopoulou EZ, Zorn S, Schirmer M, Herrmann G, Heger S, Reinehr T, Denzer C, Rabenstein H, Hillmer M, Sowada N, et al. Horm Res Paediatr. 2022; 95(2):137-148. Epub 2021 Oct 22.

RefSeq genomic sequence
See the genomic reference sequence for the SH2B1 gene (NG_029706.2).
RefSeq mRNA
See reference mRNA sequence for the SH2B1 gene (NM_015503.3).
RefSeq protein isoforms
See 9 reference sequence protein isoforms for the SH2B1 gene.

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NP_056318 [Domain Mapping of Disease Mut...]
NP_056318
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
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Protein