Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E380K

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.E380K
c.1138G>A
Surrounding Variants
1 paper
NM_001927.4
p.M381_A382insATC
c.1141_1145ins9
1 paper
NM_001927.4
p.A382T
c.1144G>A
1 paper
NM_001927.4
p.A382P
c.1144G>C
1 paper
NM_001927.4
p.L377L
c.1131C>A
9 papers
NM_001927.4
p.L377P
c.1130T>C
1 paper
NM_001927.4
p.H384Y
c.1150C>T
1 paper
NM_001927.4
p.R375Q
c.1124G>A
1 paper
NM_001927.4
p.R375L
c.1124G>T
1 paper
NM_001927.4
p.R375_H376insFs
c.1124_1127dup4
1 paper
NM_001927.4
p.I374M
c.1122C>G
28 papers
NM_001927.4
p.L385P
c.1154T>C
4 papers
NM_001927.4
p.R386H
c.1157G>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."