Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.G83A

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.G83A
c.248G>C
Surrounding Variants
1 paper
NM_000422.3
p.G83S
c.247G>A
1 paper
NM_000422.3
p.E84Q
c.250G>C
1 paper
NM_000422.3
p.G82R
c.244G>A
1 paper
NM_000422.3
p.A86G
c.257C>G
1 paper
NM_000422.3
p.L79R
c.236T>G
1 paper
NM_000422.3
p.M88R
c.263T>G
9 papers
NM_000422.3
p.M88T
c.263T>C
5 papers
NM_000422.3
p.M88K
c.263T>A
1 paper
NM_000422.3
p.G78E
c.233G>A
1 paper
NM_000422.3
p.Q89E
c.265C>G
1 paper
NM_000422.3
p.Q89H
c.267G>T
1 paper
NM_000422.3
p.Q89H
c.267G>C
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