Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.F63I

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.F63I
c.187T>A
Surrounding Variants
1 paper
NM_000422.3
p.S62R
c.186C>G
1 paper
NM_000422.3
p.S62R
c.186C>A
1 paper
NM_000422.3
p.S62T
c.185G>C
1 paper
NM_000422.3
p.S62N
c.185G>A
1 paper
NM_000422.3
p.G64R
c.190G>C
1 paper
NM_000422.3
p.G64S
c.190G>A
2 papers
NM_000422.3
p.S62C
c.184A>T
1 paper
NM_000422.3
p.S62R
c.184A>C
1 paper
NM_000422.3
p.Y61C
c.182A>G
1 paper
NM_000422.3
p.S65C
c.194C>G
1 paper
NM_000422.3
p.C60S
c.179G>C
1 paper
NM_000422.3
p.C60S
c.178T>A
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