Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.R41K

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.R41K
c.122G>A
Surrounding Variants
1 paper
NM_000422.3
p.R41insFs
c.121_122insT
1 paper
NM_000422.3
p.L42M
c.124C>A
1 paper
NM_000422.3
p.L42P
c.125T>C
1 paper
NM_000422.3
p.S39F
c.116C>T
1 paper
NM_000422.3
p.G38del1
c.112_113delGCC
1 paper
NM_000422.3
p.G43G
c.129A>T
1 paper
NM_000422.3
p.S44A
c.130T>G
1 paper
NM_000422.3
p.S44F
c.131C>T
1 paper
NM_000422.3
p.G38S
c.112G>A
1 paper
NM_000422.3
p.A45V
c.134C>T
1 paper
NM_000422.3
p.A37T
c.109G>A
1 paper
NM_000422.3
p.G36V
c.107G>T
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