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.R598_P599del1

c.1793_1795delGCC

Surrounding Variants

1 paper

NM_004393.6

p.R598_F612del15

c.1792_1835del45

1 paper

NM_004393.6

p.R598insFs

c.1792_1793insG

1 paper

NM_004393.6

p.R598L

c.1793G>T

1 paper

NM_004393.6

p.D602N

c.1804G>A

2 papers

NM_004393.6

p.P605delFs

c.1813delC

1 paper

NM_004393.6

p.A587T

c.1759G>A

2 papers

NM_004393.6

p.G583R

c.1747G>A

1 paper

NM_004393.6

p.G583R

c.1747G>C

1 paper

NM_004393.6

p.K582N

c.1746G>C

1 paper

NM_004393.6

p.P616L

c.1847C>T

1 paper

NM_004393.6

p.H624Y

c.1870C>T

1 paper

NM_004393.6

p.G571C

c.1711G>T