Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.L345P

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
66 papers
NM_001927.4
p.L345P
c.1034T>C
Surrounding Variants
1 paper
NM_001927.4
p.M346_R347del1
c.1038_1040delGAG
1 paper
NM_001927.4
p.S344P
c.1030T>C
1 paper
NM_001927.4
p.S344_R355del12
c.1030_1064del36
3 papers
NM_001927.4
p.D343N
c.1027G>A
1 paper
NM_001927.4
p.R347S
c.1041G>C
1 paper
NM_001927.4
p.R347S
c.1041G>T
7 papers
NM_001927.4
p.Q348P
c.1043A>C
48 papers
NM_001927.4
p.N342D
c.1024A>G
15 papers
NM_001927.4
p.R350W
c.1048C>T
1 paper
NM_001927.4
p.R350Q
c.1049G>A
73 papers
NM_001927.4
p.R350P
c.1049G>C
1 paper
NM_001927.4
p.E351K
c.1051G>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."