Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.L99P

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
14 papers
NM_000422.3
p.L99P
c.296T>C
Surrounding Variants
3 papers
NM_000422.3
p.S97del1
c.289_290delGGA
7 papers
NM_000422.3
p.Y98D
c.292T>G
6 papers
NM_000422.3
p.V102M
c.304G>A
1 paper
NM_000422.3
p.V102G
c.305T>G
1 paper
NM_000422.3
p.V102A
c.305T>C
1 paper
NM_000422.3
p.A96S
c.286G>T
1 paper
NM_000422.3
p.A96T
c.286G>A
6 papers
NM_000422.3
p.R103C
c.307C>T
10 papers
NM_000422.3
p.L95P
c.284T>C
4 papers
NM_000422.3
p.L95Q
c.284T>A
1 paper
NM_000422.3
p.R103R
c.309T>C
1 paper
NM_000422.3
p.A104T
c.310G>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."