rs202053568

This variant is located in the BLK gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

Systemic lupus erythematosus; Maturity-onset diabetes of the young type 11

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About BLK

This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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