Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.C60S

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.C60S
c.179G>C
Surrounding Variants
1 paper
NM_000422.3
p.C60S
c.178T>A
2 papers
NM_000422.3
p.S59R
c.177C>G
3 papers
NM_000422.3
p.S59R
c.177C>A
1 paper
NM_000422.3
p.S59insFs
c.175dupA
1 paper
NM_000422.3
p.S59N
c.176G>A
1 paper
NM_000422.3
p.Y61C
c.182A>G
2 papers
NM_000422.3
p.S59R
c.175A>C
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.S62T
c.185G>C
1 paper
NM_000422.3
p.S62N
c.185G>A
1 paper
NM_000422.3
p.S58F
c.173C>T
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