KRT6C

Chr 12

keratin 6C

Also known as: K6E, KRT6E, PPKNEFD

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPalmoplantar keratoderma, non-epidermolytic, focal or diffuse
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
1.85
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — KRT6C
Authoritative clinical overview · Recommended first read
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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?
1.85LOEUF
pLI 0.000
Z-score -1.67
OE 1.40 (1.041.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.19Z-score
OE missense 1.19 (1.091.30)
366 obs / 307.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.40 (1.041.85)
00.351.4
Missense OE?1.19 (1.091.30)
00.61.4
Synonymous OE?1.26
01.21.6
LoF obs/exp: 28 / 19.9Missense obs/exp: 366 / 307.4Syn Z: -2.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KRT6C · 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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