Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.D131A

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.D131A
c.392A>C
Surrounding Variants
1 paper
NM_000526.5
p.A127_D131del0
c.380_391del12
3 papers
NM_000526.5
p.L130P
c.389T>C
1 paper
NM_000526.5
p.L130V
c.388C>G
10 papers
NM_000526.5
p.V133L
c.397G>T
11 papers
NM_000526.5
p.V133L
c.397G>C
10 papers
NM_000526.5
p.V133M
c.397G>A
3 papers
NM_000526.5
p.V133A
c.398T>C
1 paper
NM_000526.5
p.Y129C
c.386A>G
5 papers
NM_000526.5
p.S128del1
c.382_383delGGA
16 papers
NM_000526.5
p.Y129D
c.385T>G
2 papers
NM_000526.5
p.Y129N
c.385T>A
1 paper
NM_000526.5
p.V133V
c.399G>T
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