Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.S71I

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.S71I
c.212G>T
Surrounding Variants
1 paper
NM_000422.3
p.S71T
c.212G>C
1 paper
NM_000422.3
p.S71N
c.212G>A
1 paper
NM_000422.3
p.S71R
c.213C>G
1 paper
NM_000422.3
p.S71R
c.213C>A
1 paper
NM_000422.3
p.S71R
c.211A>C
1 paper
NM_000422.3
p.S72R
c.214A>C
1 paper
NM_000422.3
p.S72I
c.215G>T
1 paper
NM_000422.3
p.S72N
c.215G>A
1 paper
NM_000422.3
p.G70R
c.208G>C
1 paper
NM_000422.3
p.G70S
c.208G>A
1 paper
NM_000422.3
p.S72R
c.216C>G
1 paper
NM_000422.3
p.S72R
c.216C>A
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."