Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.K449T

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
28 papers
NM_001927.4
p.K449T
c.1346A>C
Surrounding Variants
1 paper
NM_001927.4
p.K449insFs
c.1346_1347insA
1 paper
NM_001927.4
p.I451I
c.1353C>A
54 papers
NM_001927.4
p.I451M
c.1353C>G
1 paper
NM_001927.4
p.E452K
c.1354G>A
1 paper
NM_001927.4
p.T453delFs
c.1357_1358delAC
19 papers
NM_001927.4
p.T453I
c.1358C>T
8 papers
NM_001927.4
p.T445A
c.1333A>G
67 papers
NM_001927.4
p.R454W
c.1360C>T
1 paper
NM_001927.4
p.K444_T445delFs
c.1332_1335del4
1 paper
NM_001927.4
p.R454Q
c.1361G>A
1 paper
NM_001927.4
p.D455_G456insC
c.1363_1367ins3
2 papers
NM_001927.4
p.G456R
c.1366G>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."