Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.F166L

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.F166L
c.496T>C
Surrounding Variants
2 papers
NM_000526.5
p.F166L
c.498C>G
2 papers
NM_000526.5
p.F166L
c.498C>A
1 paper
NM_000526.5
p.K167N
c.501G>T
1 paper
NM_000526.5
p.K167N
c.501G>C
1 paper
NM_000526.5
p.S163T
c.488G>C
1 paper
NM_000526.5
p.I169S
c.506T>G
2 papers
NM_000526.5
p.I169T
c.506T>C
8 papers
NM_000526.5
p.E170K
c.508G>A
1 paper
NM_000526.5
p.D171V
c.512A>T
1 paper
NM_000526.5
p.K160I
c.479A>T
1 paper
NM_000526.5
p.L172P
c.515T>C
1 paper
NM_000526.5
p.R173M
c.518G>T
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