Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.L112R

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
2 papers
NM_001927.4
p.L112R
c.335T>G
Surrounding Variants
3 papers
NM_001927.4
p.L112Q
c.335T>A
2 papers
NM_001927.4
p.Q113fs
c.337_338fs
1 paper
NM_001927.4
p.Q113delFs
c.338_339delAG
1 paper
NM_001927.4
p.Q113fs
c.337_338fs
14 papers
NM_001927.4
p.E114del1
c.340_341delGAG
1 paper
NM_001927.4
p.E111_L112insFs
c.333_334insT
1 paper
NM_001927.4
p.E111G
c.332A>G
3 papers
NM_001927.4
p.E111*
c.331G>T
1 paper
NM_001927.4
p.E114G
c.341A>G
5 papers
NM_001927.4
p.L112_L115del0
c.336_344del9
2 papers
NM_001927.4
p.L115del1
c.343_344delCTC
13 papers
NM_001927.4
p.L115I
c.343C>A
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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."