Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.L169F

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.L169F
c.505C>T
Surrounding Variants
1 paper
NM_001927.4
p.T170I
c.509C>T
4 papers
NM_001927.4
p.R173_E179del0
c.517_537del21
1 paper
NM_001927.4
p.R173_D181delFs
c.517_541del25
1 paper
NM_001927.4
p.R173S
c.517C>A
2 papers
NM_001927.4
p.R173C
c.517C>T
4 papers
NM_001927.4
p.Q165_A174delins
c.493_520delinsGCGT
2 papers
NM_001927.4
p.R173H
c.518G>A
1 paper
NM_001927.4
p.R164ins2
c.490_491ins6
1 paper
NM_001927.4
p.R163P
c.488G>C
1 paper
NM_001927.4
p.R163del1
c.487_489delCGG
1 paper
NM_001927.4
p.V176fs
c.526_527fs
1 paper
NM_001927.4
p.V176delFs
c.528delC
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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."