Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.T9T

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.T9T
c.27C>A
Surrounding Variants
1 paper
NM_000422.3
p.M1_T9del9
c.1_26del27
1 paper
NM_000422.3
p.T9N
c.26C>A
1 paper
NM_000422.3
p.T9A
c.25A>G
1 paper
NM_000422.3
p.Q7R
c.20A>G
1 paper
NM_000422.3
p.S12N
c.35G>A
1 paper
NM_000422.3
p.R6L
c.17G>T
1 paper
NM_000422.3
p.R6H
c.17G>A
1 paper
NM_000422.3
p.R6C
c.16C>T
1 paper
NM_000422.3
p.I5M
c.15C>G
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
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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."