Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R30delFs

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.R30delFs
c.90delG
Surrounding Variants
4 papers
NM_000526.5
p.I31fs
c.91_92fs
1 paper
NM_000526.5
p.R30insFs
c.90dupC
1 paper
NM_000526.5
p.R30P
c.89G>C
1 paper
NM_000526.5
p.R30H
c.89G>A
9 papers
NM_000526.5
p.I31delFs
c.92delA
4 papers
NM_000526.5
p.S32T
c.94T>A
2 papers
NM_000526.5
p.R30C
c.88C>T
1 paper
NM_000526.5
p.S32F
c.95C>T
1 paper
NM_000526.5
p.S29R
c.87C>G
1 paper
NM_000526.5
p.S29R
c.87C>A
2 papers
NM_000526.5
p.S33T
c.97T>A
1 paper
NM_000526.5
p.S29R
c.85A>C
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