KRT76

Chr 12

keratin 76

NCBI Gene: 51350ENSG00000185069UniProt: Q01546

Probably contributes to terminal cornification

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.42
LOEUF
Multiple*
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.42LOEUF
pLI 0.000
Z-score 0.05
OE 0.99 (0.70–1.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.75Z-score
OE missense 1.11 (1.02–1.21)
402 obs / 361.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.99 (0.70–1.42)
0≤0.351.4
Missense OE?1.11 (1.02–1.21)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 21 / 21.2Missense obs/exp: 402 / 361.7Syn Z: -1.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KRT76 · 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