Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.S12delins

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.S12delins
c.35_36delinsTA
Surrounding Variants
1 paper
NM_001927.4
p.S12Y
c.35C>A
7 papers
NM_001927.4
p.S12F
c.35C>T
1 paper
NM_001927.4
p.S12delins
c.35_36delinsTT
1 paper
NM_001927.4
p.S12P
c.34T>C
1 paper
NM_001927.4
p.S13del1
c.37_38delTCC
2 papers
NM_001927.4
p.S13P
c.37T>C
3 papers
NM_001927.4
p.S13Y
c.38C>A
33 papers
NM_001927.4
p.S13F
c.38C>T
2 papers
NM_001927.4
p.R10insFs
c.28_29insA
1 paper
NM_001927.4
p.R15S
c.43C>A
1 paper
NM_001927.4
p.R15P
c.44G>C
1 paper
NM_001927.4
p.Q9K
c.25C>A
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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."