Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.Q9ins5

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.Q9ins5
c.25_26ins15
Surrounding Variants
1 paper
NM_001927.4
p.Q9K
c.25C>A
1 paper
NM_001927.4
p.Q9_V11insFs
c.26_33dup8
1 paper
NM_001927.4
p.S8C
c.22A>T
2 papers
NM_001927.4
p.R10insFs
c.28_29insA
5 papers
NM_001927.4
p.S7F
c.20C>T
1 paper
NM_001927.4
p.S7P
c.19T>C
1 paper
NM_001927.4
p.S7_Y14delFs
c.19_40del22
3 papers
NM_001927.4
p.S6W
c.17C>G
1 paper
NM_001927.4
p.S13del1
c.37_38delTCC
1 paper
NM_001927.4
p.S12P
c.34T>C
1 paper
NM_001927.4
p.S6A
c.16T>G
1 paper
NM_001927.4
p.S12Y
c.35C>A
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