Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.K15K

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.K15K
c.45G>A
Surrounding Variants
1 paper
NM_000422.3
p.G16A
c.47G>C
1 paper
NM_000422.3
p.G16D
c.47G>A
1 paper
NM_000422.3
p.S17Y
c.50C>A
1 paper
NM_000422.3
p.S13delFs
c.38delG
1 paper
NM_000422.3
p.S13del1
c.37_38delGGA
1 paper
NM_000422.3
p.S13S
c.39C>A
1 paper
NM_000422.3
p.G19R
c.55G>C
1 paper
NM_000422.3
p.G19S
c.55G>A
1 paper
NM_000422.3
p.S12N
c.35G>A
1 paper
NM_000422.3
p.L20L
c.60G>A
1 paper
NM_000422.3
p.G21R
c.61G>C
1 paper
NM_000422.3
p.G21R
c.61G>A
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