Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E245D

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
50 papers
NM_001927.4
p.E245D
c.735G>C
Surrounding Variants
43 papers
NM_001927.4
p.E245D
c.735G>T
7 papers
NM_001927.4
p.E245G
c.734A>G
19 papers
NM_001927.4
p.E245_E246Splc
c.735+1G>A
4 papers
NM_001927.4
p.E245_E246Splc
c.735+1G>C
12 papers
NM_001927.4
p.E245_E246Splc
c.735+1G>T
1 paper
NM_001927.4
p.E245*
c.733G>T
1 paper
NM_001927.4
p.E245_E246Splc
c.735+2T>C
26 papers
NM_001927.4
p.E245_E246Splc
c.735+3A>G
8 papers
NM_001927.4
p.E245del1
c.733_734delGAG
2 papers
NM_001927.4
p.E244A
c.731A>C
1 paper
NM_001927.4
p.E244K
c.730G>A
2 papers
NM_001927.4
p.H243R
c.728A>G
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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."