ZNF888

zinc finger protein 888, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:52904415-52923470

Links

ENSG00000213793

∙ NCBI:388559 ∙ ∙ HGNC:38695 ∙ Uniprot:P0CJ79 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF888 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF888 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1 clinvar		1
missense				1 clinvar		1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	2	0

Variants in ZNF888

This is a list of pathogenic ClinVar variants found in the ZNF888 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-52906633-T-A			Likely benign (May 01, 2022)	2650399
19-52915318-A-C			Likely benign (Jul 01, 2024)	3024858

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.;

Gene ontology

Biological process: regulation of transcription, DNA-templated
Cellular component: nucleus
Molecular function: DNA binding;metal ion binding