Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.S56R

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.S56R
c.166A>C
Surrounding Variants
1 paper
NM_000422.3
p.S56R
c.168C>G
1 paper
NM_000422.3
p.S56R
c.168C>A
1 paper
NM_000422.3
p.G54V
c.161G>T
2 papers
NM_000422.3
p.G54D
c.161G>A
1 paper
NM_000422.3
p.S58A
c.172T>G
1 paper
NM_000422.3
p.G54C
c.160G>T
1 paper
NM_000422.3
p.G54S
c.160G>A
1 paper
NM_000422.3
p.S58F
c.173C>T
1 paper
NM_000422.3
p.G53E
c.158G>A
1 paper
NM_000422.3
p.G53R
c.157G>C
1 paper
NM_000422.3
p.G53R
c.157G>A
2 papers
NM_000422.3
p.S59R
c.175A>C
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