Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R299H

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.R299H
c.896G>A
Surrounding Variants
1 paper
NM_000526.5
p.R299P
c.896G>C
1 paper
NM_000526.5
p.N298S
c.893A>G
1 paper
NM_000526.5
p.A302P
c.904G>C
1 paper
NM_000526.5
p.A302G
c.905C>G
1 paper
NM_000526.5
p.E296K
c.886G>A
1 paper
NM_000526.5
p.E304*
c.910G>T
1 paper
NM_000526.5
p.E304K
c.910G>A
5 papers
NM_000526.5
p.M294T
c.881T>C
1 paper
NM_000526.5
p.M294V
c.880A>G
1 paper
NM_000526.5
p.K293K
c.879G>A
1 paper
NM_000526.5
p.W305L
c.914G>T
12 papers
NM_000526.5
p.W305*
c.914G>A
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