CDC14C

cell division cycle 14C

Basic information

Region (hg38): 7:48924547-48927454

Links

ENSG00000218305

∙ NCBI:168448 ∙ ∙ HGNC:22427 ∙ Uniprot:A4D256 ∙ 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 CDC14C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDC14C 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						0
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	1	0

Variants in CDC14C

This is a list of pathogenic ClinVar variants found in the CDC14C region.

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

Position	Type	Phenotype	Significance	ClinVar
7-48924688-C-T			Likely benign (Aug 01, 2022)	2657496

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Dual-specificity phosphatase. Preferentially dephosphorylates proteins modified by proline-directed kinases (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0997

Gene ontology

Biological process: microtubule cytoskeleton organization;mitotic cell cycle;regulation of exit from mitosis;positive regulation of cytokinesis;peptidyl-tyrosine dephosphorylation;mitotic cell cycle arrest
Cellular component: spindle pole;nucleolus;cytoplasm;endoplasmic reticulum membrane;centrosome;integral component of membrane;mitotic spindle
Molecular function: protein serine/threonine phosphatase activity;protein tyrosine phosphatase activity;protein tyrosine/serine/threonine phosphatase activity