Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E100K

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.E100K
c.298G>A
Surrounding Variants
1 paper
NM_001927.4
p.Q99L
c.296A>T
2 papers
NM_001927.4
p.E100D
c.300G>T
1 paper
NM_001927.4
p.Q99K
c.295C>A
1 paper
NM_001927.4
p.N98Y
c.292A>T
1 paper
NM_001927.4
p.V97E
c.290T>A
2 papers
NM_001927.4
p.A96G
c.287C>G
1 paper
NM_001927.4
p.A96T
c.286G>A
1 paper
NM_001927.4
p.A96S
c.286G>T
1 paper
NM_001927.4
p.D95_A96del1
c.285_287delCGC
1 paper
NM_001927.4
p.T104T
c.312G>A
2 papers
NM_001927.4
p.R105C
c.313C>T
1 paper
NM_001927.4
p.R105_T106insFs
c.315_316insC
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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."