KIFC1

Chr 6

kinesin family member C1

Also known as: HSET, KNSL2

NCBI Gene: 3833ENSG00000237649UniProt: Q9BW19

Predicted to enable ATP hydrolysis activity; microtubule binding activity; and minus-end-directed microtubule motor activity. Involved in mitotic metaphase chromosome alignment and mitotic spindle assembly. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
41
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.60
LOEUF
DN
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
Moderate LoF intolerance
LoF Constraint?
0.60LOEUF
pLI 0.001
Z-score 3.27
OE 0.36 (0.23–0.60)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.68Z-score
OE missense 0.77 (0.70–0.84)
311 obs / 406.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.23–0.60)
0≤0.351.4
Missense OE?0.77 (0.70–0.84)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 11 / 30.5Missense obs/exp: 311 / 406.4Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KIFC1 · 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