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.S179*

c.536C>A

Surrounding Variants

1 paper

NM_004393.6

p.G175delFs

c.525delT

1 paper

NM_004393.6

p.A184V

c.551C>T

1 paper

NM_004393.6

p.D185insFs

c.553_554ins5

1 paper

NM_004393.6

p.P172Q

c.515C>A

1 paper

NM_004393.6

p.S171S

c.513C>T

1 paper

NM_004393.6

p.P172insFs

c.515dupC

1 paper

NM_004393.6

p.R168S

c.504G>C

1 paper

NM_004393.6

p.R168S

c.504G>T

1 paper

NM_004393.6

p.L191delFs

c.572delT

1 paper

NM_004393.6

p.V167_R168insFs

c.501_502insC

27 papers

NM_004393.6

p.T192M

c.575C>T

1 paper

NM_004393.6

p.S166L

c.497C>T