Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.S32F

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.S32F
c.95C>T
Surrounding Variants
1 paper
NM_000422.3
p.L31delFs
c.92delA
2 papers
NM_000422.3
p.G34S
c.100G>A
1 paper
NM_000422.3
p.R30P
c.89G>C
1 paper
NM_000422.3
p.G34D
c.101G>A
1 paper
NM_000422.3
p.R30Q
c.89G>A
1 paper
NM_000422.3
p.R30W
c.88C>T
1 paper
NM_000422.3
p.G34insFs
c.101_102insG
1 paper
NM_000422.3
p.G34delFs
c.100delC
1 paper
NM_000422.3
p.C29*
c.87C>A
1 paper
NM_000422.3
p.L35P
c.104T>C
1 paper
NM_000422.3
p.C29R
c.85T>C
1 paper
NM_000422.3
p.G36V
c.107G>T
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