KRT77

Chr 12

keratin 77

Also known as: K1B, KRT1B

NCBI Gene: 374454ENSG00000189182UniProt: Q7Z794

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.26
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?
1.26LOEUF
pLI 0.000
Z-score 0.58
OE 0.87 (0.61–1.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.46Z-score
OE missense 1.07 (0.98–1.17)
360 obs / 336.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.87 (0.61–1.26)
0≤0.351.4
Missense OE?1.07 (0.98–1.17)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 20 / 23.0Missense obs/exp: 360 / 336.1Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KRT77 · 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