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.V156_Y157insFs

c.468_469insT

Surrounding Variants

1 paper

NM_004393.6

p.V156insFs

c.467_468insT

1 paper

NM_004393.6

p.S153_I154insFs

c.459_460insG

1 paper

NM_004393.6

p.D160Y

c.478G>T

1 paper

NM_004393.6

p.D160G

c.479A>G

1 paper

NM_004393.6

p.F152Y

c.455T>A

1 paper

NM_004393.6

p.H161R

c.482A>G

1 paper

NM_004393.6

p.V151M

c.451G>A

1 paper

NM_004393.6

p.E163Q

c.487G>C

1 paper

NM_004393.6

p.Q147H

c.441G>C

1 paper

NM_004393.6

p.Q147*

c.439C>T

1 paper

NM_004393.6

p.S166L

c.497C>T

1 paper

NM_004393.6

p.P146P

c.438C>T