Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A210D

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
4 papers
NM_001927.4
p.A210D
c.629C>A
Surrounding Variants
1 paper
NM_001927.4
p.A209D
c.626C>A
2 papers
NM_001927.4
p.A209V
c.626C>T
1 paper
NM_001927.4
p.A209T
c.625G>A
7 papers
NM_001927.4
p.R212*
c.634C>T
7 papers
NM_001927.4
p.R212Q
c.635G>A
1 paper
NM_001927.4
p.R212P
c.635G>C
40 papers
NM_001927.4
p.A213V
c.638C>T
1 paper
NM_001927.4
p.A213_D214Splc
c.639+1G>A
1 paper
NM_001927.4
p.A213_D214Splc
c.639+1G>T
2 papers
NM_001927.4
p.N206D
c.616A>G
1 paper
NM_001927.4
p.E205D
c.615G>C
1 paper
NM_001927.4
p.E205D
c.615G>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."