RAB6C

protein-coding

RAB6C, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Gene summary

Enables GTPase activity. Involved in mitotic cell cycle; regulation of centrosome duplication; and response to xenobiotic stimulus. Located in centrosome. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_032144.3

Inheritance

—

ClinVar variants

U:43

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr2:129,979,666-129,982,738

External References & Databases

Ensembl (ENSG00000222014)

Transcript & Mutation Effects

hg38 • Region Span ~3.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RAB6C variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 43

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032144.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			43 clinvar			43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	0	0	43

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032144.3	RefSeq	NP_115520.2	1	MANE Select
ENST00000410061.4	Ensembl	ENSP00000387307.2	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

mitotic cell cycle
intracellular protein transport
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
intra-Golgi vesicle-mediated transport
small GTPase mediated signal transduction

Molecular Function

GTPase activity
GTP binding

Cellular Component

nucleus
Golgi apparatus
centrosome
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000410061
Coding exons: 1
Length: 3077

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.102	128	131	0.975	0.00000597	1626
Missense (PolyPhen)		38	40.129	0.94694		527
Synonymous	0.114	51	52.0	0.980	0.00000250	511
Loss of Function

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in the regulation of centrosome duplication and cell cycle progression. {ECO:0000269|PubMed:17426708, ECO:0000269|PubMed:18992151, ECO:0000269|PubMed:20064528}.;

Recessive Scores

pRec: 0.0289

Intolerance Scores

LoFtool: 0.722
RVIS EVS: 1.66
RVIS percentile EVS: 96.23

Essentials

Essential (CRISPR): E
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.197

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium