rs538034673

This variant is located in the MAFA gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Islet cell adenomatosis; not specified

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About MAFA

MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]

View all MAFA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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