TSNARE1

protein-coding

t-SNARE domain containing 1

Gene summary

Predicted to enable SNAP receptor activity and SNARE binding activity. Predicted to be involved in intracellular protein transport; vesicle docking; and vesicle fusion. Predicted to be located in membrane. Predicted to be part of SNARE complex. Predicted to be active in synaptic vesicle. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_145003.5

Inheritance

—

ClinVar variants

U:133B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.53

Max pathogenic AF

—

Genomic locus

chr8:142,212,080-142,403,182

External References & Databases

Ensembl (ENSG00000171045)

Transcript & Mutation Effects

hg38 • Region Span ~191.1 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 TSNARE1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 126

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_145003.5. 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			1 clinvar	2 clinvar	1 clinvar	4
missense			122 clinvar	7 clinvar	1 clinvar	130
nonsense			1 clinvar		1 clinvar	2
start loss						0
frameshift			1 clinvar	1 clinvar		2
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	133	10	3	146

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 102 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_145003.5	RefSeq	NP_659440.2	12	MANE Select
ENST00000524325.6	Ensembl	ENSP00000428763.2	12	MANE Select
NM_001291931.2	RefSeq	NP_001278860.1	10	Standard
NM_001363740.2	RefSeq	NP_001350669.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

intracellular protein transport
vesicle fusion
vesicle docking

Molecular Function

SNARE binding
SNAP receptor activity

Cellular Component

endomembrane system
integral component of membrane
SNARE complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000307180
Coding exons: 12
Length: 191161
Individuals with no LoFs: 125158
Homozygous LoFs: 3
Heterozygous LoFs: 585
Defined: 125746
p: 0.00234

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0540	326	323	1.01	0.0000219	3225
Missense (PolyPhen)		61	74.123	0.82296		761
Synonymous	0.250	137	141	0.973	0.00000984	1055
Loss of Function	2.22	14	26.3	0.533	0.00000138	289

Population LoF Frequency

Population	CAF	p-value	Status
African	0.027	0.027	notable
Latino/Admixed American	0.0015	0.0015	notable
Ashkenazi Jewish	0.0042	0.0042	notable
East Asian	0.00011	0.00011	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00052	0.00050	rare
South Asian	0.00010	0.000098	rare
Other	0.00053	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.101

Intolerance Scores

LoFtool: 0.914
RVIS EVS: 1.05
RVIS percentile EVS: 91.37

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.190

Gene Damage Prediction

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