Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.P125T

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
2 papers
NM_000422.3
p.P125T
c.373C>A
Surrounding Variants
1 paper
NM_000422.3
p.P125L
c.374C>T
1 paper
NM_000422.3
p.P125R
c.374C>G
1 paper
NM_000422.3
p.G126W
c.376G>T
1 paper
NM_000422.3
p.G126R
c.376G>A
2 papers
NM_000422.3
p.Q123insFs
c.368_369insC
1 paper
NM_000422.3
p.P127S
c.379C>T
1 paper
NM_000422.3
p.P127L
c.380C>T
1 paper
NM_000422.3
p.A128T
c.382G>A
1 paper
NM_000422.3
p.R129C
c.385C>T
1 paper
NM_000422.3
p.R129G
c.385C>G
1 paper
NM_000422.3
p.R129H
c.386G>A
1 paper
NM_000422.3
p.R129fs
c.385_386fs
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