Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E413delins

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.E413delins
c.1237_1238delinsCG
Surrounding Variants
28 papers
NM_001927.4
p.E413K
c.1237G>A
1 paper
NM_001927.4
p.E413delins
c.1237_1238delinsAG
1 paper
NM_001927.4
p.E413G
c.1238A>G
1 paper
NM_001927.4
p.E413D
c.1239G>C
1 paper
NM_001927.4
p.E413D
c.1239G>T
1 paper
NM_001927.4
p.R415delFs
c.1243delC
10 papers
NM_001927.4
p.R415W
c.1243C>T
1 paper
NM_001927.4
p.R415delins
c.1243_1244delinsGA
5 papers
NM_001927.4
p.R415Q
c.1244G>A
2 papers
NM_001927.4
p.E410D
c.1230G>C
2 papers
NM_001927.4
p.E410D
c.1230G>T
9 papers
NM_001927.4
p.E410K
c.1228G>A
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