Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A360P

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
49 papers
NM_001927.4
p.A360P
c.1078G>C
Surrounding Variants
5 papers
NM_001927.4
p.A360S
c.1078G>T
1 paper
NM_001927.4
p.E359ins3
c.1076_1077ins9
4 papers
NM_001927.4
p.S361del1
c.1081_1082delAGT
1 paper
NM_001927.4
p.S361C
c.1081A>T
1 paper
NM_001927.4
p.S361N
c.1082G>A
2 papers
NM_001927.4
p.E359del1
c.1075_1076delGAG
34 papers
NM_001927.4
p.A357P
c.1069G>C
3 papers
NM_001927.4
p.A357_E359del0
c.1069_1077del9
1 paper
NM_001927.4
p.Q364K
c.1090C>A
4 papers
NM_001927.4
p.R355Q
c.1064G>A
21 papers
NM_001927.4
p.R355P
c.1064G>C
3 papers
NM_001927.4
p.Q364H
c.1092G>C
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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."