Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.Q152H

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.Q152H
c.456G>T
Surrounding Variants
1 paper
NM_000526.5
p.Q152H
c.456G>C
1 paper
NM_000526.5
p.Q154*
c.460C>T
1 paper
NM_000526.5
p.Q154K
c.460C>A
1 paper
NM_000526.5
p.Q154R
c.461A>G
1 paper
NM_000526.5
p.R155W
c.463C>T
1 paper
NM_000526.5
p.R155Q
c.464G>A
2 papers
NM_000526.5
p.P156L
c.467C>T
1 paper
NM_000526.5
p.A157P
c.469G>C
3 papers
NM_000526.5
p.R148C
c.442C>T
1 paper
NM_000526.5
p.R148G
c.442C>G
2 papers
NM_000526.5
p.V145A
c.434T>C
1 paper
NM_000526.5
p.K160I
c.479A>T
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