Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.L392P

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
21 papers
NM_001927.4
p.L392P
c.1175T>C
Surrounding Variants
35 papers
NM_001927.4
p.N393I
c.1178A>T
28 papers
NM_001927.4
p.Q389P
c.1166A>C
1 paper
NM_001927.4
p.Q389R
c.1166A>G
1 paper
NM_001927.4
p.Q389*
c.1165C>T
2 papers
NM_001927.4
p.L398delFs
c.1192delC
1 paper
NM_001927.4
p.R386R
c.1158C>T
1 paper
NM_001927.4
p.R386_E387delins
c.1158_1160delinsTACCAGGACCTGCTG
4 papers
NM_001927.4
p.R386H
c.1157G>A
5 papers
NM_001927.4
p.L398P
c.1193T>C
36 papers
NM_001927.4
p.D399Y
c.1195G>T
28 papers
NM_001927.4
p.L385P
c.1154T>C
1 paper
NM_001927.4
p.H384Y
c.1150C>T
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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."