rs201769704

This variant is located in the PALM2AKAP2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PALM2AKAP2

This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other taxa. The gene encodes three distinct protein isoforms, the PALM2 isoform, the AKAP2 isoform and the PALM2-AKAP2 isoform. The biological significance of the PALM2-AKAP2 isoforms is yet unknown. Earlier, PALM2 and AKAP2 were annotated as separate genes and PALM2-AKAP2 was annotated as a readthrough gene. [provided by RefSeq, May 2019]

View all PALM2AKAP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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