KLHDC9

Chr 1

kelch domain containing 9

Also known as: KARCA1

NCBI Gene: 126823ENSG00000162755UniProt: Q8NEP7OMIM: 617375

Enables cyclin binding activity. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOEUF 1.53
Clinical Summary— KLHDC9
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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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.53LOEUF
pLI 0.000
Z-score 0.07
OE 0.98 (0.65–1.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.70Z-score
OE missense 0.86 (0.76–0.98)
174 obs / 202.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.98 (0.65–1.53)
0≤0.351.4
Missense OE?0.86 (0.76–0.98)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 14 / 14.3Missense obs/exp: 174 / 202.2Syn Z: 0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KLHDC9 · 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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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