GARRE1

protein-coding

granule associated Rac and RHOG effector 1

Gene summary

Enables CCR4-NOT complex binding activity and small GTPase binding activity. Involved in Rac protein signal transduction. Located in P-body. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA0355

MANE transcript

NM_014686.5

Inheritance

—

ClinVar variants

U:178B:8

Top phenotype

KIAA0355-related condition

gnomAD constraint

pLI —, LoF o/e 0.17

Max pathogenic AF

—

Genomic locus

chr19:34,254,552-34,355,566

External References & Databases

Ensembl (ENSG00000166398)

Transcript & Mutation Effects

hg38 • Region Span ~101.0 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 GARRE1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 169

not providedTotal: 10

KIAA0355-related conditionTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014686.5. 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				5 clinvar		5
missense			171 clinvar	3 clinvar		174
nonsense			2 clinvar			2
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	178	8	0	186

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014686.5	RefSeq	NP_055501.2	13	MANE Select
ENST00000299505.8	Ensembl	ENSP00000299505.4	13	MANE Select
ENST00000588470.5	Ensembl	ENSP00000475249.1	2	Standard
ENST00000589583.5	Ensembl	ENSP00000465362.1	1	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000299505
Coding exons: 13
Length: 101050
Individuals with no LoFs: 125720
Homozygous LoFs: 0
Heterozygous LoFs: 28
Defined: 125748
p: 0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.64	507	622	0.815	0.0000359	6982
Missense (PolyPhen)		218	306.76	0.71065		3589
Synonymous	-0.857	272	255	1.07	0.0000166	2159
Loss of Function	5.22	8	46.4	0.172	0.00000226	507

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0.000097	0.000092	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00023	0.00023	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.0566
RVIS EVS: -1.12
RVIS percentile EVS: 6.61

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
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