Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.E381K

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
1 paper
NM_000526.5
p.E381K
c.1141G>A
Surrounding Variants
1 paper
NM_000526.5
p.V380V
c.1140G>C
1 paper
NM_000526.5
p.E381delFs
c.1141delC
1 paper
NM_000526.5
p.E381D
c.1143G>T
1 paper
NM_000526.5
p.E381D
c.1143G>C
1 paper
NM_000526.5
p.E382K
c.1144G>A
1 paper
NM_000526.5
p.V380M
c.1138G>A
1 paper
NM_000526.5
p.S379G
c.1135A>G
1 paper
NM_000526.5
p.I377insFs
c.1131dupT
12 papers
NM_000526.5
p.L384P
c.1151T>C
10 papers
NM_000526.5
p.I377T
c.1130T>C
1 paper
NM_000526.5
p.I377N
c.1130T>A
1 paper
NM_000526.5
p.M376K
c.1127T>A
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