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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DES

Variant:p.V34L

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

chr2:219418562 G>C

NM_001927.4

p.V34L

c.100G>C

Filament_head

exact variant not in gnomAD93 overlapping SVs

Surrounding Variants

1 paper

chr2:219418562 G>T

NM_001927.4

p.V34L

c.100G>T

Filament_head

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

1 paper

chr2:219418565 T>C

NM_001927.4

p.F35L

c.103T>C

Filament_head

Exome: 0.0% (AC=2, hom=1)Genome: n/a93 overlapping SVs

4 papers

chr2:219418555 T>C

NM_001927.4

p.S31S

c.93T>C

Filament_head

Exome: 97.8% (AC=1420620, hom=697176)Genome: 88.0% (AC=133951, hom=61082)93 overlapping SVs

1 paper

chr2:219418571 C>T

NM_001927.4

p.R37W

c.109C>T

Filament_head

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=6, hom=0)93 overlapping SVs

1 paper

chr2:219418571 CG>C

NM_001927.4

p.R37delFs

c.110delG

Filament_head

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

1 paper

chr2:219418574 GCG>N

NM_001927.4

p.A38fs

c.112_113fs

Filament_head

exact variant not in gnomAD93 overlapping SVs

1 paper

chr2:219418546 C>A

NM_001927.4

p.S28S

c.84C>A

Filament_head

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

1 paper

chr2:219418545 C>T

NM_001927.4

p.S28F

c.83C>T

Filament_head

Exome: n/aGenome: 0.0% (AC=1, hom=0)93 overlapping SVs

2 papers

chr2:219418542 G>A

NM_001927.4

p.G27D

c.80G>A

Filament_head

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

1 paper

chr2:219418541 G>A

NM_001927.4

p.G27S

c.79G>A

Filament_head

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=2, hom=0)93 overlapping SVs

1 paper

chr2:219418583 G>A

NM_001927.4

p.G41S

c.121G>A

Filament_head

Exome: 0.0% (AC=12, hom=0)Genome: n/a93 overlapping SVs

1 paper

chr2:219418583 G>T

NM_001927.4

p.G41C

c.121G>T

Filament_head

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

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