CACHD1

Chr 1

cache domain containing 1

NCBI Gene: 57685ENSG00000158966UniProt: Q5VU97

Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. [provided by Alliance of Genome Resources, Jul 2025]

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0
Active trials
4
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.57
LOEUF
—
Mechanism
Clinical Summary— CACHD1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.57LOEUF
pLI 0.000
Z-score 4.28
OE 0.41 (0.30–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.71Z-score
OE missense 0.82 (0.76–0.88)
579 obs / 707.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.41 (0.30–0.57)
0≤0.351.4
Missense OE0.82 (0.76–0.88)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 25 / 61.1Missense obs/exp: 579 / 707.1Syn Z: 0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CACHD1 · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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