PACSIN1
Chr 6protein kinase C and casein kinase substrate in neurons 1
Also known as: SDPI
Enables phospholipid binding activity. Involved in plasma membrane tubulation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
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.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.20LOEUF
pLI 0.999
Z-score 4.36
OE 0.04 (0.01–0.20)
Highly LoF-intolerant (top ~10% of genes)
Missense Constraint?
2.63Z-score
OE missense 0.54 (0.47–0.62)
140 obs / 259.2 exp
Moderately missense-constrained (top ~2.5%)
Observed / Expected Ratios?
LoF OE?0.04 (0.01–0.20)
0≤0.351.4
Missense OE?0.54 (0.47–0.62)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 1 / 24.1Missense obs/exp: 140 / 259.2Syn Z: 1.10
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PACSIN1 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools