Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A120V

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.A120V
c.359C>T
Surrounding Variants
17 papers
NM_001927.4
p.A120D
c.359C>A
1 paper
NM_001927.4
p.A120P
c.358G>C
1 paper
NM_001927.4
p.N121H
c.361A>C
20 papers
NM_001927.4
p.Y122H
c.364T>C
1 paper
NM_001927.4
p.Y122D
c.364T>G
2 papers
NM_001927.4
p.Y122S
c.365A>C
6 papers
NM_001927.4
p.Y122C
c.365A>G
1 paper
NM_001927.4
p.Y122delFs
c.366delC
1 paper
NM_001927.4
p.R118S
c.352C>A
1 paper
NM_001927.4
p.Y122*
c.366C>A
1 paper
NM_001927.4
p.Y122*
c.366C>G
1 paper
NM_001927.4
p.R118C
c.352C>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."