Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.G67D

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.G67D
c.200G>A
Surrounding Variants
1 paper
NM_000422.3
p.G67A
c.200G>C
1 paper
NM_000422.3
p.G67S
c.199G>A
1 paper
NM_000422.3
p.G66G
c.198T>A
1 paper
NM_000422.3
p.G68S
c.202G>A
3 papers
NM_000422.3
p.G68D
c.203G>A
1 paper
NM_000422.3
p.G66C
c.196G>T
1 paper
NM_000422.3
p.G66S
c.196G>A
1 paper
NM_000422.3
p.S65C
c.194C>G
1 paper
NM_000422.3
p.Y69C
c.206A>G
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.G64R
c.190G>C
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