Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.T406delFs

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.T406delFs
c.1218delC
Surrounding Variants
1 paper
NM_000526.5
p.R407G
c.1219C>G
1 paper
NM_000526.5
p.R407Q
c.1220G>A
4 papers
NM_000526.5
p.L408M
c.1222C>A
1 paper
NM_000526.5
p.E409Q
c.1225G>C
1 paper
NM_000526.5
p.E409fs
c.1225_1226fs
1 paper
NM_000526.5
p.K405*
c.1213A>T
1 paper
NM_000526.5
p.E409delFs
c.1225delC
1 paper
NM_000526.5
p.V404A
c.1211T>C
2 papers
NM_000526.5
p.V404M
c.1210G>A
2 papers
NM_000526.5
p.Q410*
c.1228C>T
1 paper
NM_000526.5
p.Q410E
c.1228C>G
9 papers
NM_000526.5
p.E411*
c.1231G>T
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