Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.T3I

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.T3I
c.8C>T
Surrounding Variants
1 paper
NM_000422.3
p.T3A
c.7A>G
1 paper
NM_000422.3
p.S4T
c.10T>A
1 paper
NM_000422.3
p.M1_T3del0
c.1_9del9
1 paper
NM_000422.3
p.T2T
c.6C>T
1 paper
NM_000422.3
p.T2S
c.5C>G
1 paper
NM_000422.3
p.T2N
c.5C>A
1 paper
NM_000422.3
p.T2S
c.4A>T
1 paper
NM_000422.3
p.T2A
c.4A>G
1 paper
NM_000422.3
p.M1I
c.3G>A
1 paper
NM_000422.3
p.I5V
c.13A>G
1 paper
NM_000422.3
p.M1K
c.2T>A
1 paper
NM_000422.3
p.I5M
c.15C>G
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