Varaico: Literature-Extracted Genetic Variants

Gene:KRT40
Variant:p.E286D

KRT40

69 papers

RefSeq Summary

This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form t...

Pfam Domains

Filamentaa 88–399UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 40

HGNC Alias Symbols

FLJ36600; KA36

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001389244.1
p.E286D
c.858G>T
Surrounding Variants
5 papers
NM_001389244.1
p.E286D
c.858G>C
1 paper
NM_001389244.1
p.S293P
c.877T>C
2 papers
NM_001389244.1
p.M303T
c.908T>C
1 paper
NM_001389244.1
p.A281_V282insFs
c.843_844insT
1 paper
NM_001389244.1
p.A281insFs
c.842_843insT
1 paper
NM_001389244.1
p.E277*
c.829G>T
1 paper
NM_001389244.1
p.E277K
c.829G>A
1 paper
NM_001389244.1
p.R273H
c.818G>A
3 papers
NM_001389244.1
p.C265Y
c.794G>A
1 paper
NM_001389244.1
p.E245E
c.735G>A
1 paper
NM_001389244.1
p.E245*
c.733G>T
1 paper
NM_001389244.1
p.R241C
c.721C>T
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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."