KRT78

Chr 12

keratin 78

Also known as: CK-78, K5B, K78, Kb40

This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.40
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.40LOEUF
pLI 0.000
Z-score 0.07
OE 0.99 (0.711.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.48Z-score
OE missense 1.08 (0.981.18)
322 obs / 298.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.99 (0.711.40)
00.351.4
Missense OE?1.08 (0.981.18)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 23 / 23.4Missense obs/exp: 322 / 298.8Syn Z: -0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KRT78 · 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

No active trials found for this gene.

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