Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.S12N

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.S12N
c.35G>A
Surrounding Variants
1 paper
NM_000422.3
p.S13S
c.39C>A
1 paper
NM_000422.3
p.S13delFs
c.38delG
1 paper
NM_000422.3
p.S13del1
c.37_38delGGA
1 paper
NM_000422.3
p.M1_T9del9
c.1_26del27
1 paper
NM_000422.3
p.T9T
c.27C>A
1 paper
NM_000422.3
p.T9N
c.26C>A
1 paper
NM_000422.3
p.K15K
c.45G>A
1 paper
NM_000422.3
p.T9A
c.25A>G
1 paper
NM_000422.3
p.G16A
c.47G>C
1 paper
NM_000422.3
p.G16D
c.47G>A
1 paper
NM_000422.3
p.S17Y
c.50C>A
1 paper
NM_000422.3
p.Q7R
c.20A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."