Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.E292K

KRT14

650 papers

RefSeq Summary

This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecul...

Pfam Domains

Filamentaa 114–425UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 14

HGNC Previous Symbols

EBS3; EBS4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000526.5
p.E292K
c.874G>A
Surrounding Variants
1 paper
NM_000526.5
p.Y291C
c.872A>G
1 paper
NM_000526.5
p.K293K
c.879G>A
1 paper
NM_000526.5
p.Q290L
c.869A>T
1 paper
NM_000526.5
p.Q290*
c.868C>T
1 paper
NM_000526.5
p.Q290K
c.868C>A
1 paper
NM_000526.5
p.M294V
c.880A>G
5 papers
NM_000526.5
p.M294T
c.881T>C
1 paper
NM_000526.5
p.D289H
c.865G>C
2 papers
NM_000526.5
p.R288L
c.863G>T
1 paper
NM_000526.5
p.R288H
c.863G>A
1 paper
NM_000526.5
p.E296K
c.886G>A
1 paper
NM_000526.5
p.R288C
c.862C>T
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