Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.V114G

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.V114G
c.341T>G
Surrounding Variants
1 paper
NM_000422.3
p.L112_V114del3
c.334_341del9
1 paper
NM_000422.3
p.K115R
c.344A>G
1 paper
NM_000422.3
p.E113A
c.338A>C
1 paper
NM_000422.3
p.I116V
c.346A>G
1 paper
NM_000422.3
p.L112P
c.335T>C
1 paper
NM_000422.3
p.I116I
c.348C>A
1 paper
NM_000422.3
p.R117C
c.349C>T
1 paper
NM_000422.3
p.R117G
c.349C>G
1 paper
NM_000422.3
p.R117H
c.350G>A
1 paper
NM_000422.3
p.E111A
c.332A>C
1 paper
NM_000422.3
p.R117R
c.351T>A
1 paper
NM_000422.3
p.D118N
c.352G>A
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