Varaico: Literature-Extracted Genetic Variants

Gene:DES

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
1–12 of 650 variants
80 papers
NM_001927.4
p.R406W
c.1216C>T
73 papers
NM_001927.4
p.R350P
c.1049G>C
67 papers
NM_001927.4
p.R454W
c.1360C>T
66 papers
NM_001927.4
p.L345P
c.1034T>C
54 papers
NM_001927.4
p.I451M
c.1353C>G
50 papers
NM_001927.4
p.E245D
c.735G>C
49 papers
NM_001927.4
p.A360P
c.1078G>C
48 papers
NM_001927.4
p.N342D
c.1024A>G
46 papers
NM_001927.4
p.A337P
c.1009G>C
43 papers
NM_001927.4
p.E245D
c.735G>T
42 papers
NM_001927.4
p.N116S
c.347A>G
40 papers
NM_001927.4
p.A213V
c.638C>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."