Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R127L

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
2 papers
NM_001927.4
p.R127L
c.380G>T
Surrounding Variants
1 paper
NM_001927.4
p.R127H
c.380G>A
5 papers
NM_001927.4
p.R127P
c.380G>C
1 paper
NM_001927.4
p.R127_F128ins1
c.381_382insATC
2 papers
NM_001927.4
p.R127S
c.379C>A
3 papers
NM_001927.4
p.R127G
c.379C>G
1 paper
NM_001927.4
p.R127C
c.379C>T
1 paper
NM_001927.4
p.R127_A135delFs
c.381_403del23
1 paper
NM_001927.4
p.F128delFs
c.383delT
1 paper
NM_001927.4
p.V126M
c.376G>A
4 papers
NM_001927.4
p.V126L
c.376G>C
4 papers
NM_001927.4
p.V126L
c.376G>T
1 paper
NM_001927.4
p.V126_E130del0
c.377_388del12
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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."