Varaico: Literature-Extracted Genetic Variants

Gene:KRT17

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
1–12 of 493 variants
40 papers
NM_000422.3
p.N92S
c.275A>G
35 papers
NM_000422.3
p.R94C
c.280C>T
18 papers
NM_000422.3
p.R94H
c.281G>A
14 papers
NM_000422.3
p.L99P
c.296T>C
11 papers
NM_000422.3
p.N92D
c.274A>G
11 papers
NM_000422.3
p.N109D
c.325A>G
10 papers
NM_000422.3
p.N92H
c.274A>C
10 papers
NM_000422.3
p.L95P
c.284T>C
9 papers
NM_000422.3
p.M88T
c.263T>C
7 papers
NM_000422.3
p.R94P
c.281G>C
7 papers
NM_000422.3
p.Y98D
c.292T>G
6 papers
NM_000422.3
p.V102M
c.304G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."