Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R105_T106insFs

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
1 paper
NM_001927.4
p.R105_T106insFs
c.315_316insC
Surrounding Variants
2 papers
NM_001927.4
p.R105C
c.313C>T
1 paper
NM_001927.4
p.T106S
c.316A>T
1 paper
NM_001927.4
p.T104T
c.312G>A
1 paper
NM_001927.4
p.N107D
c.319A>G
2 papers
NM_001927.4
p.N107I
c.320A>T
21 papers
NM_001927.4
p.E108K
c.322G>A
13 papers
NM_001927.4
p.E108*
c.322G>T
1 paper
NM_001927.4
p.E108G
c.323A>G
1 paper
NM_001927.4
p.K109E
c.325A>G
2 papers
NM_001927.4
p.K109R
c.326A>G
1 paper
NM_001927.4
p.K109N
c.327G>C
1 paper
NM_001927.4
p.K109N
c.327G>T
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