ZNF595

Chr 4

zinc finger protein 595

NCBI Gene: 152687 ENSG00000272602 UniProt: Q8IYB9

This gene encodes a Cys2His2 zinc finger transcription factor that regulates developmental and cellular processes. The specific diseases associated with ZNF595 mutations and their inheritance patterns have not been established in the provided clinical data. The gene shows moderate tolerance to loss-of-function variants based on population genetics data.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular processes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.16

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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