Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R369del1

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.R369del1
c.1105_1106delCGC
Surrounding Variants
4 papers
NM_001927.4
p.A368A
c.1104G>A
1 paper
NM_001927.4
p.A368A
c.1104G>T
1 paper
NM_001927.4
p.R369C
c.1105C>T
1 paper
NM_001927.4
p.R369H
c.1106G>A
16 papers
NM_001927.4
p.I367F
c.1099A>T
36 papers
NM_001927.4
p.L370P
c.1109T>C
1 paper
NM_001927.4
p.D365E
c.1095C>A
1 paper
NM_001927.4
p.D365E
c.1095C>G
1 paper
NM_001927.4
p.D365H
c.1093G>C
16 papers
NM_001927.4
p.N366del1
c.1096_1097delAAC
3 papers
NM_001927.4
p.Q364H
c.1092G>C
3 papers
NM_001927.4
p.Q364H
c.1092G>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."