Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.M1_Q9del9

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.M1_Q9del9
c.1_26del27
Surrounding Variants
1 paper
NM_001927.4
p.M1insFs
c.1dupA
2 papers
NM_001927.4
p.M1_Q3del0
c.1_9del9
1 paper
NM_001927.4
p.M1L
c.1A>C
3 papers
NM_001927.4
p.M1V
c.1A>G
2 papers
NM_001927.4
p.M1L
c.1A>T
1 paper
NM_001927.4
p.M1delFs
c.2delT
1 paper
NM_001927.4
p.M1_A4delFs
c.2_11del10
1 paper
NM_001927.4
p.S2_V11del10
c.4_32del30
1 paper
NM_001927.4
p.M1_S8del0
c.1_24del24
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
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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."