Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.L154L

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.L154L
c.462C>A
Surrounding Variants
1 paper
NM_001927.4
p.Y155*
c.465C>A
1 paper
NM_001927.4
p.E156insFs
c.467_468insT
1 paper
NM_001927.4
p.E156V
c.467A>T
1 paper
NM_001927.4
p.E153delFs
c.457delG
1 paper
NM_001927.4
p.E156E
c.468G>A
1 paper
NM_001927.4
p.E156_E157insFs
c.468_469insT
1 paper
NM_001927.4
p.E157K
c.469G>A
1 paper
NM_001927.4
p.E157ins1
c.470_471insGGC
1 paper
NM_001927.4
p.E157A
c.470A>C
1 paper
NM_001927.4
p.A152insFs
c.455_456insC
1 paper
NM_001927.4
p.A152del1
c.454_455delGCC
1 paper
NM_001927.4
p.E158D
c.474G>C
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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."