KRT73

Chr 12

keratin 73

Also known as: CK-73, IRT6IRS3, K6IRS3, K73, KRT6IRS3

NCBI Gene: 319101ENSG00000186049UniProt: Q86Y46

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 a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

ResearchGenerating clinical summary…
0
Active trials
2
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 0.62
OE 0.86 (0.60–1.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.44Z-score
OE missense 1.07 (0.98–1.17)
352 obs / 329.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.86 (0.60–1.26)
0≤0.351.4
Missense OE?1.07 (0.98–1.17)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 19 / 22.2Missense obs/exp: 352 / 329.6Syn Z: -0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KRT73 · 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