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

4 papers

NM_004393.6

p.T317A

c.949A>G

Surrounding Variants

3 papers

NM_004393.6

p.T319A

c.955A>G

1 paper

NM_004393.6

p.H315N

c.943C>A

1 paper

NM_004393.6

p.R312K

c.935G>A

2 papers

NM_004393.6

p.T322I

c.965C>T

1 paper

NM_004393.6

p.R311Q

c.932G>A

2 papers

NM_004393.6

p.R311W

c.931C>T

2 papers

NM_004393.6

p.R311fs

c.931_932fs

2 papers

NM_004393.6

p.V310delFs

c.930delC

1 paper

NM_004393.6

p.P326insFs

c.976_977insA

1 paper

NM_004393.6

p.P326insFs

c.977_978insA

1 paper

NM_004393.6

p.K308_R309del2

c.922_926del6

1 paper

NM_004393.6

p.P307S

c.919C>T