SPINK1

Chr 5

serine peptidase inhibitor Kazal type 1

Also known as: PCTT, PSTI, Spink3, TATI, TCP

NCBI Gene: 6690ENSG00000164266UniProt: P00995

The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPancreatitis, hereditary
UniProtTropical calcific pancreatitis

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.
1
Active trials
81
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.13
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — SPINK1
Authoritative clinical overview · Recommended first read
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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?
1.13LOEUF
pLI 0.315
Z-score 1.43
OE 0.24 (0.09–1.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.12Z-score
OE missense 1.05 (0.83–1.35)
45 obs / 42.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.24 (0.09–1.13)
0≤0.351.4
Missense OE?1.05 (0.83–1.35)
0≤0.61.4
Synonymous OE?1.26
0≤1.21.6
LoF obs/exp: 1 / 4.1Missense obs/exp: 45 / 42.7Syn Z: -0.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPINK1 · protein map & ClinVar variants

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

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