GARIN1B

protein-coding

golgi associated RAB2 interactor 1B

Gene summary

Predicted to be involved in acrosome assembly and acrosome reaction. Predicted to be located in Golgi apparatus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

FAM137A
FAM71F1

MANE transcript

NM_001282788.3

Inheritance

—

ClinVar variants

U:35B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr7:128,709,061-128,731,743

External References & Databases

Ensembl (ENSG00000135248)

Transcript & Mutation Effects

hg38 • Region Span ~22.7 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 GARIN1B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 37

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001282788.3. 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					1 clinvar	1
missense			35 clinvar	3 clinvar		38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	3	1	39

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001282788.3	RefSeq	NP_001269717.1	7	MANE Select
ENST00000621392.5	Ensembl	ENSP00000477573.2	7	MANE Select
NM_001282789.2	RefSeq	NP_001269718.1	7	Standard
NM_032599.4	RefSeq	NP_115988.1	7	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000315184
Coding exons: 7
Length: 22683
Individuals with no LoFs: 125494
Homozygous LoFs: 2
Heterozygous LoFs: 251
Defined: 125747
p: 0.00101

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.782	155	185	0.838	0.00000956	2236
Missense (PolyPhen)		54	68.837	0.78446		858
Synonymous	0.672	71	78.6	0.904	0.00000440	685
Loss of Function	0.995	13	17.5	0.743	8.28e-7	199

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0039	0.0038	notable
Latino/Admixed American	0.00038	0.00038	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00049	0.00049	rare
Finnish	0.0045	0.0045	notable
European (Non-Finnish)	0.00056	0.00055	rare
South Asian	0.000065	0.000065	rare
Other	0.0011	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0867

Intolerance Scores

LoFtool: 0.893
RVIS EVS: 0.35
RVIS percentile EVS: 74.37

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00460

Gene Damage Prediction

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