Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E234*

DES

1,044 papers

RefSeq Summary

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plas...

Pfam Domains

Filament_headaa 9–106UCSCIntermediate filament head (DNA binding) region
Filamentaa 107–415UCSCIntermediate filament protein

Gene Aliases

HGNC Name

desmin

HGNC Alias Symbols

CMD1I; CSM1; CSM2; LGMD2R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001927.4
p.E234*
c.700G>T
Surrounding Variants
5 papers
NM_001927.4
p.E234K
c.700G>A
1 paper
NM_001927.4
p.L232P
c.695T>C
1 paper
NM_001927.4
p.L232F
c.694C>T
1 paper
NM_001927.4
p.I236M
c.708C>G
2 papers
NM_001927.4
p.A237T
c.709G>A
1 paper
NM_001927.4
p.F238insFs
c.713_714insG
1 paper
NM_001927.4
p.L239F
c.715C>T
9 papers
NM_001927.4
p.K240del1
c.718_719delAAG
1 paper
NM_001927.4
p.R227H
c.680G>A
5 papers
NM_001927.4
p.K241E
c.721A>G
4 papers
NM_001927.4
p.R227C
c.679C>T
3 papers
NM_001927.4
p.V242E
c.725T>A
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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."