Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.L126R

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.L126R
c.377T>G
Surrounding Variants
3 papers
NM_000526.5
p.L126Q
c.377T>A
1 paper
NM_000526.5
p.L126V
c.376C>G
1 paper
NM_000526.5
p.D124_R125del2
c.370_374del6
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.A127V
c.380C>T
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
1 paper
NM_000526.5
p.S128A
c.382T>G
3 papers
NM_000526.5
p.S128P
c.382T>C
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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."