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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DES

Variant:p.V56L

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:219418628 G>T

NM_001927.4

p.V56L

c.166G>T

Filament_head

Exome: 0.0% (AC=15, hom=0)Genome: n/a93 overlapping SVs

Surrounding Variants

2 papers

chr2:219418628 G>C

NM_001927.4

p.V56L

c.166G>C

Filament_head

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=31, hom=0)93 overlapping SVs

7 papers

chr2:219418632 C>T

NM_001927.4

p.S57L

c.170C>T

Filament_head

Exome: 0.0% (AC=178, hom=1)Genome: 0.1% (AC=106, hom=0)93 overlapping SVs

1 paper

chr2:219418634 C>T

NM_001927.4

p.R58C

c.172C>T

Filament_head

Exome: 0.0% (AC=1, hom=0)Genome: n/a93 overlapping SVs

1 paper

chr2:219418622 T>G

NM_001927.4

p.Y54D

c.160T>G

Filament_head

exact variant not in gnomAD93 overlapping SVs

4 papers

chr2:219418635 G>A

NM_001927.4

p.R58H

c.173G>A

Filament_head

Exome: 0.0% (AC=0, hom=0)Genome: n/a93 overlapping SVs

1 paper

chr2:219418620 T>C

NM_001927.4

p.V53A

c.158T>C

Filament_head

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)93 overlapping SVs

2 papers

chr2:219418619 G>A

NM_001927.4

p.V53M

c.157G>A

Filament_head

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)93 overlapping SVs

1 paper

chr2:219418638 CGTCGGGCGGGG>C

NM_001927.4

p.T59_A63delFs

c.177_187del11

Filament_head

exact variant not in gnomAD93 overlapping SVs

1 paper

chr2:219418617 G>A

NM_001927.4

p.R52H

c.155G>A

Filament_head

Exome: 0.0% (AC=1, hom=0)Genome: n/a93 overlapping SVs

2 papers

chr2:219418617 G>T

NM_001927.4

p.R52L

c.155G>T

Filament_head

Exome: 0.0% (AC=0, hom=0)Genome: n/a93 overlapping SVs

1 paper

chr2:219418616 C>T

NM_001927.4

p.R52C

c.154C>T

Filament_head

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=0, hom=0)93 overlapping SVs

1 paper

chr2:219418641 C>T

NM_001927.4

p.S60L

c.179C>T

Filament_head

Exome: 0.0% (AC=2, hom=0)Genome: n/a93 overlapping SVs

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