rs1001892590

This variant is located in the RNF144A gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About RNF144A

This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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