Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.Y5D

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.Y5D
c.13T>G
Surrounding Variants
1 paper
NM_001927.4
p.A4A
c.12C>T
2 papers
NM_001927.4
p.A4V
c.11C>T
1 paper
NM_001927.4
p.A4T
c.10G>A
1 paper
NM_001927.4
p.A4insFs
c.11_12insC
1 paper
NM_001927.4
p.S6A
c.16T>G
3 papers
NM_001927.4
p.S6W
c.17C>G
1 paper
NM_001927.4
p.Q3Q
c.9G>A
1 paper
NM_001927.4
p.S7_Y14delFs
c.19_40del22
1 paper
NM_001927.4
p.Q3E
c.7C>G
1 paper
NM_001927.4
p.S7P
c.19T>C
5 papers
NM_001927.4
p.S7F
c.20C>T
1 paper
NM_001927.4
p.S2N
c.5G>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."