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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DES

Variant:p.L74R

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

chr2:219418683 T>G

NM_001927.4

p.L74R

c.221T>G

Filament_head

exact variant not in gnomAD93 overlapping SVs

Surrounding Variants

2 papers

chr2:219418680 G>A

NM_001927.4

p.R73Q

c.218G>A

Filament_head

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)93 overlapping SVs

7 papers

chr2:219418687 GA>G

NM_001927.4

p.T76delFs

c.226delA

Filament_head

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=5, hom=0)93 overlapping SVs

1 paper

chr2:219418688 A>AN

NM_001927.4

p.T76fs

c.226_227fs

Filament_head

exact variant not in gnomAD93 overlapping SVs

3 papers

chr2:219418688 ACC>N

NM_001927.4

p.T76fs

c.226_227fs

Filament_head

exact variant not in gnomAD93 overlapping SVs

1 paper

chr2:219418678 C>A

NM_001927.4

p.S72R

c.216C>A

Filament_head

Exome: 0.0% (AC=108, hom=0)Genome: 0.0% (AC=15, hom=0)93 overlapping SVs

1 paper

chr2:219418690 C>T

NM_001927.4

p.T76T

c.228C>T

Filament_head

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)93 overlapping SVs

1 paper

chr2:219418691 A>G

NM_001927.4

p.T77A

c.229A>G

Filament_head

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=3, hom=0)93 overlapping SVs

1 paper

chr2:219418692 C>T

NM_001927.4

p.T77I

c.230C>T

Filament_head

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

1 paper

chr2:219418673 GC>G

NM_001927.4

p.A71delFs

c.213delC

Filament_head

exact variant not in gnomAD93 overlapping SVs

1 paper

chr2:219418671 G>C

NM_001927.4

p.R70P

c.209G>C

Filament_head

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)93 overlapping SVs

1 paper

chr2:219418695 G>T

NM_001927.4

p.R78L

c.233G>T

Filament_head

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)93 overlapping SVs

2 papers

chr2:219418670 C>T

NM_001927.4

p.R70W

c.208C>T

Filament_head

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

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