Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R134C

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
5 papers
NM_000526.5
p.R134C
c.400C>T
Surrounding Variants
1 paper
NM_000526.5
p.V133V
c.399G>T
5 papers
NM_000526.5
p.R134P
c.401G>C
1 paper
NM_000526.5
p.R134H
c.401G>A
3 papers
NM_000526.5
p.V133A
c.398T>C
10 papers
NM_000526.5
p.V133L
c.397G>T
11 papers
NM_000526.5
p.V133L
c.397G>C
10 papers
NM_000526.5
p.V133M
c.397G>A
2 papers
NM_000526.5
p.L136P
c.407T>C
2 papers
NM_000526.5
p.L136Q
c.407T>A
1 paper
NM_000526.5
p.D131A
c.392A>C
1 paper
NM_000526.5
p.A127_D131del0
c.380_391del12
3 papers
NM_000526.5
p.L130P
c.389T>C
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