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.K743T

c.2228A>C

Surrounding Variants

1 paper

NM_004393.6

p.E746D

c.2238G>C

1 paper

NM_004393.6

p.V736delFs

c.2208delG

1 paper

NM_004393.6

p.T734S

c.2200A>T

1 paper

NM_004393.6

p.H752H

c.2256C>T

1 paper

NM_004393.6

p.P728delFs

c.2184delC

1 paper

NM_004393.6

p.V727M

c.2179G>A

1 paper

NM_004393.6

p.R726_V727del2

c.2176_2180del6

2 papers

NM_004393.6

p.P724L

c.2171C>T

1 paper

NM_004393.6

p.P723fs

c.2167_2168fs

1 paper

NM_004393.6

p.P723delFs

c.2167delC

1 paper

NM_004393.6

p.Q717H

c.2151G>C

1 paper

NM_004393.6

p.Q717H

c.2151G>T