Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.L136Q

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.L136Q
c.407T>A
Surrounding Variants
2 papers
NM_000526.5
p.L136P
c.407T>C
1 paper
NM_000526.5
p.E138K
c.412G>A
5 papers
NM_000526.5
p.R134P
c.401G>C
1 paper
NM_000526.5
p.R134H
c.401G>A
19 papers
NM_000526.5
p.E138V
c.413A>T
1 paper
NM_000526.5
p.E138A
c.413A>C
1 paper
NM_000526.5
p.E138D
c.414G>T
1 paper
NM_000526.5
p.E138D
c.414G>C
5 papers
NM_000526.5
p.R134C
c.400C>T
1 paper
NM_000526.5
p.V133V
c.399G>T
2 papers
NM_000526.5
p.A139P
c.415G>C
3 papers
NM_000526.5
p.V133A
c.398T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."