SAR1A

Chr 10

secretion associated Ras related GTPase 1A

Also known as: SAR1, SARA1, Sara, masra2

NCBI Gene: 56681ENSG00000079332UniProt: Q9NR31

Enables G protein activity and amino acid sensor activity. Involved in COPII-coated vesicle budding; cellular response to leucine starvation; and negative regulation of TORC1 signaling. Located in endoplasmic reticulum. Is active in COPII vesicle coat; endoplasmic reticulum exit site; and lysosomal membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.70
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.372
Z-score 2.16
OE 0.22 (0.09–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.09Z-score
OE missense 0.45 (0.36–0.57)
51 obs / 113.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.22 (0.09–0.70)
0≤0.351.4
Missense OE?0.45 (0.36–0.57)
0≤0.61.4
Synonymous OE?0.69
0≤1.21.6
LoF obs/exp: 2 / 9.0Missense obs/exp: 51 / 113.8Syn Z: 1.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SAR1A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients