Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.A413V

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.A413V
c.1238C>T
Surrounding Variants
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.I412M
c.1236C>G
1 paper
NM_000526.5
p.T414A
c.1240A>G
1 paper
NM_000526.5
p.I412T
c.1235T>C
2 papers
NM_000526.5
p.I412N
c.1235T>A
1 paper
NM_000526.5
p.T414N
c.1241C>A
4 papers
NM_000526.5
p.I412F
c.1234A>T
1 paper
NM_000526.5
p.I412V
c.1234A>G
1 paper
NM_000526.5
p.I412L
c.1234A>C
10 papers
NM_000526.5
p.E411del1
c.1231_1232delCTC
19 papers
NM_000526.5
p.Y415H
c.1243T>C
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