Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.T76fs

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.T76fs
c.226_227fs
Surrounding Variants
3 papers
NM_001927.4
p.T76fs
c.226_227fs
7 papers
NM_001927.4
p.T76delFs
c.226delA
1 paper
NM_001927.4
p.T76T
c.228C>T
1 paper
NM_001927.4
p.T77A
c.229A>G
1 paper
NM_001927.4
p.T77I
c.230C>T
1 paper
NM_001927.4
p.L74R
c.221T>G
1 paper
NM_001927.4
p.R78L
c.233G>T
2 papers
NM_001927.4
p.R73Q
c.218G>A
1 paper
NM_001927.4
p.S72R
c.216C>A
1 paper
NM_001927.4
p.P80_S81del1
c.239_241delCCT
1 paper
NM_001927.4
p.P80delins
c.239delinsGAGG
1 paper
NM_001927.4
p.P80P
c.240C>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."