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

8 papers

NM_004393.6

p.S654A

c.1960T>G

Surrounding Variants

1 paper

NM_004393.6

p.S654T

c.1960T>A

1 paper

NM_004393.6

p.S654C

c.1961C>G

1 paper

NM_004393.6

p.G653A

c.1958G>C

1 paper

NM_004393.6

p.L647V

c.1939C>G

1 paper

NM_004393.6

p.T646T

c.1938C>T

1 paper

NM_004393.6

p.T663A

c.1987A>G

1 paper

NM_004393.6

p.C642*

c.1926T>A

2 papers

NM_004393.6

p.C642delFs

c.1926delT

1 paper

NM_004393.6

p.C642delFs

c.1925_1926delGT

1 paper

NM_004393.6

p.E667insFs

c.1999_2000insT

1 paper

NM_004393.6

p.R640*

c.1918C>T

1 paper

NM_004393.6

p.C669R

c.2005T>C