rs750411325

This variant is located in the PIK3R2 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Inborn genetic diseases; Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

About PIK3R2

Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]

View all PIK3R2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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