Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E197del1

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.E197del1
c.589_590delGAG
Surrounding Variants
1 paper
NM_001927.4
p.L194Q
c.581T>A
1 paper
NM_001927.4
p.K193Splc
c.579-1G>C
1 paper
NM_001927.4
p.K193Splc
c.579-2A>C
1 paper
NM_001927.4
p.L200_A204del0
c.598_612del15
5 papers
NM_001927.4
p.L200delFs
c.600delG
4 papers
NM_001927.4
p.K201fs
c.601_602fs
2 papers
NM_001927.4
p.K201N
c.603G>C
2 papers
NM_001927.4
p.K201N
c.603G>T
4 papers
NM_001927.4
p.E203K
c.607G>A
2 papers
NM_001927.4
p.E203G
c.608A>G
1 paper
NM_001927.4
p.E203D
c.609A>C
1 paper
NM_001927.4
p.A204fs
c.610_611fs
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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."