Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.I402T

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
9 papers
NM_001927.4
p.I402T
c.1205T>C
Surrounding Variants
3 papers
NM_001927.4
p.I402N
c.1205T>A
22 papers
NM_001927.4
p.E401D
c.1203G>C
22 papers
NM_001927.4
p.E401D
c.1203G>T
1 paper
NM_001927.4
p.A403A
c.1209C>A
20 papers
NM_001927.4
p.E401K
c.1201G>A
1 paper
NM_001927.4
p.T404insFs
c.1211dupC
1 paper
NM_001927.4
p.Y405S
c.1214A>C
36 papers
NM_001927.4
p.D399Y
c.1195G>T
80 papers
NM_001927.4
p.R406W
c.1216C>T
3 papers
NM_001927.4
p.R406Q
c.1217G>A
1 paper
NM_001927.4
p.R406P
c.1217G>C
5 papers
NM_001927.4
p.L398P
c.1193T>C
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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."