Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A63V

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.A63V
c.188C>T
Surrounding Variants
1 paper
NM_001927.4
p.G62R
c.184G>A
3 papers
NM_001927.4
p.G65S
c.193G>A
2 papers
NM_001927.4
p.G61C
c.181G>T
1 paper
NM_001927.4
p.L66M
c.196C>A
1 paper
NM_001927.4
p.S60L
c.179C>T
1 paper
NM_001927.4
p.L66R
c.197T>G
1 paper
NM_001927.4
p.L66L
c.198G>A
1 paper
NM_001927.4
p.T59_A63delFs
c.177_187del11
1 paper
NM_001927.4
p.S68fs
c.202_203fs
4 papers
NM_001927.4
p.R58H
c.173G>A
1 paper
NM_001927.4
p.R58C
c.172C>T
1 paper
NM_001927.4
p.L69Fs
c.205_206delinsAACTFs
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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."