Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.H326R

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
8 papers
NM_001927.4
p.H326R
c.977A>G
Surrounding Variants
1 paper
NM_001927.4
p.H326insFs
c.976_977insA
1 paper
NM_001927.4
p.H326Y
c.976C>T
1 paper
NM_001927.4
p.R325Q
c.974G>A
1 paper
NM_001927.4
p.Q329*
c.985C>T
1 paper
NM_001927.4
p.M322T
c.965T>C
1 paper
NM_001927.4
p.Y331N
c.991T>A
1 paper
NM_001927.4
p.C333_E334insT
c.997_1001ins3
1 paper
NM_001927.4
p.Q319R
c.956A>G
1 paper
NM_001927.4
p.E320delFs
c.958delG
3 papers
NM_001927.4
p.E334K
c.1000G>A
1 paper
NM_001927.4
p.E334A
c.1001A>C
1 paper
NM_001927.4
p.A317P
c.949G>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."