Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.Q131H

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.Q131H
c.393G>T
Surrounding Variants
1 paper
NM_001927.4
p.Q131H
c.393G>C
1 paper
NM_001927.4
p.Q131L
c.392A>T
1 paper
NM_001927.4
p.Q132*
c.394C>T
1 paper
NM_001927.4
p.Q132R
c.395A>G
2 papers
NM_001927.4
p.Q131K
c.391C>A
1 paper
NM_001927.4
p.L129R
c.386T>G
1 paper
NM_001927.4
p.A134E
c.401C>A
1 paper
NM_001927.4
p.A134A
c.402G>A
2 papers
NM_001927.4
p.A135T
c.403G>A
1 paper
NM_001927.4
p.A135G
c.404C>G
3 papers
NM_001927.4
p.A135V
c.404C>T
1 paper
NM_001927.4
p.F128delFs
c.383delT
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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."