Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A337P

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
46 papers
NM_001927.4
p.A337P
c.1009G>C
Surrounding Variants
3 papers
NM_001927.4
p.A337T
c.1009G>A
1 paper
NM_001927.4
p.A337G
c.1010C>G
3 papers
NM_001927.4
p.A337V
c.1010C>T
1 paper
NM_001927.4
p.L338_K339del2
c.1012_1016del6
4 papers
NM_001927.4
p.D336Y
c.1006G>T
1 paper
NM_001927.4
p.L338P
c.1013T>C
17 papers
NM_001927.4
p.L338R
c.1013T>G
4 papers
NM_001927.4
p.L338L
c.1014G>C
1 paper
NM_001927.4
p.E334A
c.1001A>C
3 papers
NM_001927.4
p.E334K
c.1000G>A
2 papers
NM_001927.4
p.G340D
c.1019G>A
1 paper
NM_001927.4
p.C333_E334insT
c.997_1001ins3
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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."