TBC1D3I

TBC1 domain family member 3I

Basic information

Region (hg38): 17:36253456-36264570

Links

ENSG00000274933

∙ NCBI:102724862 ∙ ∙ HGNC:32709 ∙ Uniprot:A0A087WXS9 ∙ 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 TBC1D3I gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBC1D3I 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				3 clinvar		3
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	4	0

Variants in TBC1D3I

This is a list of pathogenic ClinVar variants found in the TBC1D3I region.

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

Position	Significance	ClinVar
17-36260240-C-T	Likely benign (Jul 01, 2024)	3026214
17-36260264-C-G	Likely benign (Jul 01, 2024)	3026038
17-36260301-G-A	Likely benign (Dec 01, 2022)	2647682
17-36260853-C-A	Likely benign (Nov 01, 2022)	2647683

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). {ECO:0000250|UniProtKB:Q8IZP1}.;

Gene ontology

Biological process: intracellular protein transport;activation of GTPase activity
Cellular component: plasma membrane
Molecular function: GTPase activator activity;Rab GTPase binding