Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R52C

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.R52C
c.154C>T
Surrounding Variants
1 paper
NM_001927.4
p.R52H
c.155G>A
2 papers
NM_001927.4
p.R52L
c.155G>T
1 paper
NM_001927.4
p.S51F
c.152C>T
2 papers
NM_001927.4
p.V53M
c.157G>A
1 paper
NM_001927.4
p.V53A
c.158T>C
1 paper
NM_001927.4
p.T50M
c.149C>T
1 paper
NM_001927.4
p.T50fs
c.148_149fs
1 paper
NM_001927.4
p.Y54D
c.160T>G
1 paper
NM_001927.4
p.T50_S51delFs
c.148_151del4
1 paper
NM_001927.4
p.S48*
c.143C>A
2 papers
NM_001927.4
p.V56L
c.166G>C
1 paper
NM_001927.4
p.V56L
c.166G>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."