Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.N140S

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.N140S
c.419A>G
Surrounding Variants
1 paper
NM_000526.5
p.N140I
c.419A>T
1 paper
NM_000526.5
p.A141T
c.421G>A
2 papers
NM_000526.5
p.A139P
c.415G>C
1 paper
NM_000526.5
p.E138D
c.414G>T
1 paper
NM_000526.5
p.E138D
c.414G>C
1 paper
NM_000526.5
p.D142N
c.424G>A
19 papers
NM_000526.5
p.E138V
c.413A>T
1 paper
NM_000526.5
p.D142G
c.425A>G
1 paper
NM_000526.5
p.E138A
c.413A>C
1 paper
NM_000526.5
p.E138K
c.412G>A
12 papers
NM_000526.5
p.L143P
c.428T>C
4 papers
NM_000526.5
p.L143delFs
c.427delG
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