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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DES

Variant:p.G20G

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

chr2:219418522 G>A

NM_001927.4

p.G20G

c.60G>A

Filament_head

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

Surrounding Variants

2 papers

chr2:219418523 G>C

NM_001927.4

p.A21P

c.61G>C

Filament_head

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

1 paper

chr2:219418520 G>T

NM_001927.4

p.G20W

c.58G>T

Filament_head

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

3 papers

chr2:219418527 C>G

NM_001927.4

p.P22R

c.65C>G

Filament_head

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)93 overlapping SVs

1 paper

chr2:219418516 C>A

NM_001927.4

p.F18L

c.54C>A

Filament_head

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

1 paper

chr2:219418516 C>G

NM_001927.4

p.F18L

c.54C>G

Filament_head

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

1 paper

chr2:219418530 G>T

NM_001927.4

p.G23V

c.68G>T

Filament_head

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

1 paper

chr2:219418514 T>C

NM_001927.4

p.F18L

c.52T>C

Filament_head

exact variant not in gnomAD93 overlapping SVs

1 paper

chr2:219418514 T>G

NM_001927.4

p.F18V

c.52T>G

Filament_head

exact variant not in gnomAD93 overlapping SVs

2 papers

chr2:219418532 T>C

NM_001927.4

p.F24L

c.70T>C

Filament_head

exact variant not in gnomAD93 overlapping SVs

1 paper

chr2:219418511 A>C

NM_001927.4

p.T17P

c.49A>C

Filament_head

exact variant not in gnomAD93 overlapping SVs

2 papers

chr2:219418534 C>A

NM_001927.4

p.F24L

c.72C>A

Filament_head

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

2 papers

chr2:219418534 C>G

NM_001927.4

p.F24L

c.72C>G

Filament_head

exact variant not in gnomAD93 overlapping SVs

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