Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R164ins2

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.R164ins2
c.490_491ins6
Surrounding Variants
1 paper
NM_001927.4
p.R163P
c.488G>C
4 papers
NM_001927.4
p.Q165_A174delins
c.493_520delinsGCGT
1 paper
NM_001927.4
p.R163del1
c.487_489delCGG
3 papers
NM_001927.4
p.E161K
c.481G>A
1 paper
NM_001927.4
p.R160W
c.478C>T
1 paper
NM_001927.4
p.L159P
c.476T>C
1 paper
NM_001927.4
p.L159ins1
c.476_477insGGA
1 paper
NM_001927.4
p.L159M
c.475C>A
1 paper
NM_001927.4
p.L159L
c.475C>T
1 paper
NM_001927.4
p.L169F
c.505C>T
1 paper
NM_001927.4
p.E158D
c.474G>C
1 paper
NM_001927.4
p.T170I
c.509C>T
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