Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.A42V

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.A42V
c.125C>T
Surrounding Variants
1 paper
NM_000526.5
p.A42D
c.125C>A
1 paper
NM_000526.5
p.A42delFs
c.124_125delGC
1 paper
NM_000526.5
p.P43A
c.127C>G
1 paper
NM_000526.5
p.R41R
c.123C>G
1 paper
NM_000526.5
p.R41H
c.122G>A
2 papers
NM_000526.5
p.R41C
c.121C>T
4 papers
NM_000526.5
p.P43insFs
c.129dupC
1 paper
NM_000526.5
p.S44N
c.131G>A
2 papers
NM_000526.5
p.T45A
c.133A>G
2 papers
NM_000526.5
p.T45I
c.134C>T
1 paper
NM_000526.5
p.S39F
c.116C>T
1 paper
NM_000526.5
p.G38R
c.112G>A
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