Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.Y415H

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
19 papers
NM_000526.5
p.Y415H
c.1243T>C
Surrounding Variants
7 papers
NM_000526.5
p.Y415C
c.1244A>G
1 paper
NM_000526.5
p.Y415S
c.1244A>C
1 paper
NM_000526.5
p.T414N
c.1241C>A
2 papers
NM_000526.5
p.R416C
c.1246C>T
1 paper
NM_000526.5
p.T414A
c.1240A>G
8 papers
NM_000526.5
p.R416P
c.1247G>C
1 paper
NM_000526.5
p.R416H
c.1247G>A
1 paper
NM_000526.5
p.R416delFs
c.1246delG
1 paper
NM_000526.5
p.A413V
c.1238C>T
3 papers
NM_000526.5
p.A413P
c.1237G>C
23 papers
NM_000526.5
p.A413T
c.1237G>A
1 paper
NM_000526.5
p.R417C
c.1249C>T
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