Varaico: Literature-Extracted Genetic Variants

DAG1

433 papers

RefSeq Summary

This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein underg...

Pfam Domains

He_PIGaa 61–156UCSCPutative Ig domain

a_DG1_N2aa 182–304UCSCAlpha-Dystroglycan N-terminal domain 2

DAG1aa 606–895UCSCDystroglycan (Dystrophin-associated glycoprotein 1)

Gene Aliases

HGNC Name

dystroglycan 1

HGNC Alias Symbols

A3a; 156DAG; AGRNR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004393.6

p.F241delFs

c.723delC

Surrounding Variants

1 paper

NM_004393.6

p.A240G

c.719C>G

1 paper

NM_004393.6

p.M242_A243delFs

c.726_727delGG

1 paper

NM_004393.6

p.P245delFs

c.734delC

1 paper

NM_004393.6

p.P245L

c.734C>T

2 papers

NM_004393.6

p.A248delFs

c.743delC

1 paper

NM_004393.6

p.A248fs

c.742_743fs

1 paper

NM_004393.6

p.V251A

c.752T>C

1 paper

NM_004393.6

p.V252G

c.755T>G

1 paper

NM_004393.6

p.V230M

c.688G>A

1 paper

NM_004393.6

p.P229insFs

c.686dupC

1 paper

NM_004393.6

p.G255E

c.764G>A

1 paper

NM_004393.6

p.S259F

c.776C>T