KRT79

Chr 12

keratin 79

Also known as: K6L, KRT6L

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 skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.47
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?
1.47LOEUF
pLI 0.000
Z-score -0.19
OE 1.04 (0.751.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.11Z-score
OE missense 1.02 (0.931.11)
330 obs / 324.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.04 (0.751.47)
00.351.4
Missense OE?1.02 (0.931.11)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 24 / 23.0Missense obs/exp: 330 / 324.4Syn Z: -1.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KRT79 · 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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