Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.S2N

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.S2N
c.5G>A
Surrounding Variants
18 papers
NM_001927.4
p.S2I
c.5G>T
1 paper
NM_001927.4
p.Q3delFs
c.7delC
1 paper
NM_001927.4
p.S2C
c.4A>T
1 paper
NM_001927.4
p.Q3E
c.7C>G
4 papers
NM_001927.4
p.M1I
c.3G>A
1 paper
NM_001927.4
p.M1I
c.3G>C
2 papers
NM_001927.4
p.M1I
c.3G>T
2 papers
NM_001927.4
p.M1R
c.2T>G
1 paper
NM_001927.4
p.M1insFs
c.2_3insC
1 paper
NM_001927.4
p.M1insFs
c.3dupG
1 paper
NM_001927.4
p.M1L
c.1A>C
3 papers
NM_001927.4
p.M1V
c.1A>G
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."