Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.N308I

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.N308I
c.923A>T
Surrounding Variants
1 paper
NM_001927.4
p.A306E
c.917C>A
1 paper
NM_001927.4
p.N311_D312delFs
c.931_935del5
1 paper
NM_001927.4
p.A306T
c.916G>A
1 paper
NM_001927.4
p.A306delFs
c.917_918delCA
1 paper
NM_001927.4
p.Q305H
c.915G>C
2 papers
NM_001927.4
p.Q305*
c.913C>T
1 paper
NM_001927.4
p.N311N
c.933C>T
20 papers
NM_001927.4
p.D312N
c.934G>A
6 papers
NM_001927.4
p.D312A
c.935A>C
1 paper
NM_001927.4
p.A313A
c.939C>T
1 paper
NM_001927.4
p.L314L
c.940C>T
1 paper
NM_001927.4
p.R315_Q316insC
c.943_947ins3
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."