Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A38fs

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.A38fs
c.112_113fs
Surrounding Variants
1 paper
NM_001927.4
p.R37W
c.109C>T
1 paper
NM_001927.4
p.R37delFs
c.110delG
1 paper
NM_001927.4
p.G41S
c.121G>A
1 paper
NM_001927.4
p.G41C
c.121G>T
1 paper
NM_001927.4
p.F35L
c.103T>C
1 paper
NM_001927.4
p.V34L
c.100G>C
1 paper
NM_001927.4
p.V34L
c.100G>T
1 paper
NM_001927.4
p.S42S
c.126T>C
7 papers
NM_001927.4
p.K43E
c.127A>G
1 paper
NM_001927.4
p.K43T
c.128A>C
1 paper
NM_001927.4
p.G44R
c.130G>C
1 paper
NM_001927.4
p.G44C
c.130G>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."