Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R189Q

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.R189Q
c.566G>A
Surrounding Variants
2 papers
NM_001927.4
p.R189W
c.565C>T
1 paper
NM_001927.4
p.L190F
c.568C>T
8 papers
NM_001927.4
p.L190P
c.569T>C
1 paper
NM_001927.4
p.L190R
c.569T>G
1 paper
NM_001927.4
p.Q188*
c.562C>T
2 papers
NM_001927.4
p.L187P
c.560T>C
1 paper
NM_001927.4
p.K193ins3
c.577_578ins9
1 paper
NM_001927.4
p.D185N
c.553G>A
1 paper
NM_001927.4
p.L184I
c.550C>A
1 paper
NM_001927.4
p.L184delFs
c.550delC
1 paper
NM_001927.4
p.N182S
c.545A>G
1 paper
NM_001927.4
p.N182I
c.545A>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."