Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.G84R

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
3 papers
NM_001927.4
p.G84R
c.250G>C
Surrounding Variants
10 papers
NM_001927.4
p.G84S
c.250G>A
1 paper
NM_001927.4
p.Y83Y
c.249C>T
1 paper
NM_001927.4
p.A85_G86delFs
c.253_256del4
1 paper
NM_001927.4
p.Y83N
c.247T>A
1 paper
NM_001927.4
p.S82C
c.245C>G
1 paper
NM_001927.4
p.G86R
c.256G>C
1 paper
NM_001927.4
p.G86G
c.258C>T
1 paper
NM_001927.4
p.P80P
c.240C>T
1 paper
NM_001927.4
p.P80delins
c.239delinsGAGG
1 paper
NM_001927.4
p.P80_S81del1
c.239_241delCCT
1 paper
NM_001927.4
p.L89P
c.266T>C
1 paper
NM_001927.4
p.R78L
c.233G>T
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