Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.L143P

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.L143P
c.428T>C
Surrounding Variants
1 paper
NM_001927.4
p.L143V
c.427C>G
11 papers
NM_001927.4
p.K144*
c.430A>T
1 paper
NM_001927.4
p.L143delFs
c.427delC
1 paper
NM_001927.4
p.N141I
c.422A>T
1 paper
NM_001927.4
p.G145D
c.434G>A
2 papers
NM_001927.4
p.N141D
c.421A>G
1 paper
NM_001927.4
p.G145G
c.435C>A
1 paper
NM_001927.4
p.R146delins
c.436_438delinsTGG
1 paper
NM_001927.4
p.R146H
c.437G>A
1 paper
NM_001927.4
p.V140M
c.418G>A
1 paper
NM_001927.4
p.V140L
c.418G>C
1 paper
NM_001927.4
p.V140L
c.418G>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."