Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.S45P

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
2 papers
NM_001927.4
p.S45P
c.133T>C
Surrounding Variants
2 papers
NM_001927.4
p.S45A
c.133T>G
1 paper
NM_001927.4
p.S45_S46insFs
c.135_136insC
1 paper
NM_001927.4
p.S45Y
c.134C>A
2 papers
NM_001927.4
p.S45C
c.134C>G
4 papers
NM_001927.4
p.S45F
c.134C>T
1 paper
NM_001927.4
p.G44R
c.130G>C
1 paper
NM_001927.4
p.G44C
c.130G>T
16 papers
NM_001927.4
p.S46Y
c.137C>A
20 papers
NM_001927.4
p.S46F
c.137C>T
1 paper
NM_001927.4
p.S46_S47delins
c.137_139delinsTCT
1 paper
NM_001927.4
p.K43T
c.128A>C
7 papers
NM_001927.4
p.K43E
c.127A>G
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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."