Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.D124E

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
2 papers
NM_000526.5
p.D124E
c.372C>G
Surrounding Variants
2 papers
NM_000526.5
p.D124E
c.372C>A
120 papers
NM_000526.5
p.R125C
c.373C>T
11 papers
NM_000526.5
p.R125G
c.373C>G
18 papers
NM_000526.5
p.R125S
c.373C>A
12 papers
NM_000526.5
p.R125L
c.374G>T
34 papers
NM_000526.5
p.R125P
c.374G>C
61 papers
NM_000526.5
p.R125H
c.374G>A
1 paper
NM_000526.5
p.D124N
c.370G>A
1 paper
NM_000526.5
p.L122_N123del0
c.364_369del6
3 papers
NM_000526.5
p.N123K
c.369T>G
11 papers
NM_000526.5
p.N123N
c.369T>C
3 papers
NM_000526.5
p.N123K
c.369T>A
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