Varaico: Literature-Extracted Genetic Variants

Gene:KRT80
Variant:p.I313N

KRT80

122 papers

RefSeq Summary

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile s...

Pfam Domains

Filamentaa 82–393UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 80

HGNC Alias Symbol

KB20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_182507.3
p.I313N
c.938T>A
Surrounding Variants
1 paper
NM_182507.3
p.S311F
c.932C>T
1 paper
NM_182507.3
p.R275W
c.823C>T
1 paper
NM_182507.3
p.A272T
c.814G>A
1 paper
NM_182507.3
p.A270D
c.809C>A
1 paper
NM_182507.3
p.E269A
c.806A>C
1 paper
NM_182507.3
p.R265H
c.794G>A
1 paper
NM_182507.3
p.A263T
c.787G>A
1 paper
NM_182507.3
p.A261T
c.781G>A
1 paper
NM_182507.3
p.D260G
c.779A>G
1 paper
NM_182507.3
p.K256R
c.767A>G
1 paper
NM_182507.3
p.G250S
c.748G>A
1 paper
NM_182507.3
p.S249I
c.746G>T
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