Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A213_D214Splc

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
8 papers
NM_001927.4
p.A213_D214Splc
c.640-2A>C
Surrounding Variants
6 papers
NM_001927.4
p.A213_D214Splc
c.640-2A>G
6 papers
NM_001927.4
p.A213_D214Splc
c.640-2A>T
12 papers
NM_001927.4
p.A213_D214Splc
c.640-1G>A
1 paper
NM_001927.4
p.A213_D214Splc
c.640-4C>G
2 papers
NM_001927.4
p.D214Y
c.640G>T
1 paper
NM_001927.4
p.D214A
c.641A>C
1 paper
NM_001927.4
p.V215G
c.644T>G
1 paper
NM_001927.4
p.D216N
c.646G>A
1 paper
NM_001927.4
p.D216Y
c.646G>T
2 papers
NM_001927.4
p.A213_D214Splc
c.640-13T>A
10 papers
NM_001927.4
p.T219P
c.655A>C
2 papers
NM_001927.4
p.T219I
c.656C>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."