DNM1P34

dynamin 1 pseudogene 34

Basic information

Region (hg38): 15:75301642-75302664

Previous symbols: [ "DNM1DN8@" ]

Links

ENSG00000260357 ∙ NCBI:729809 ∙ ∙ HGNC:35181 ∙ Uniprot:Q6PK57 ∙ 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 DNM1P34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNM1P34 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						0
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	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Biological process: mitochondrial fission;dynamin family protein polymerization involved in mitochondrial fission;apoptotic mitochondrial changes;regulation of mitochondrion organization;mitochondrial fragmentation involved in apoptotic process;intracellular distribution of mitochondria;membrane fusion;clathrin-dependent endocytosis;regulation of autophagy of mitochondrion
• Cellular component: cytoplasm;membrane;mitochondrial membrane
• Molecular function: GTPase activity;GTP binding;microtubule binding