Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.R26C

KRT17

286 papers

RefSeq Summary

This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawl...

Pfam Domains

Filamentaa 83–394UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 17

HGNC Previous Symbol

PCHC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000422.3
p.R26C
c.76C>T
Surrounding Variants
1 paper
NM_000422.3
p.R26L
c.77G>T
1 paper
NM_000422.3
p.R26H
c.77G>A
1 paper
NM_000422.3
p.S24S
c.72G>A
1 paper
NM_000422.3
p.T27N
c.80C>A
3 papers
NM_000422.3
p.S24L
c.71C>T
1 paper
NM_000422.3
p.C29R
c.85T>C
1 paper
NM_000422.3
p.G23R
c.67G>C
2 papers
NM_000422.3
p.G23S
c.67G>A
1 paper
NM_000422.3
p.G22fs
c.64_65fs
1 paper
NM_000422.3
p.G22delFs
c.65delC
1 paper
NM_000422.3
p.G22D
c.65G>A
1 paper
NM_000422.3
p.C29*
c.87C>A
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