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.G284R

c.850G>C

Surrounding Variants

1 paper

NM_004393.6

p.E283K

c.847G>A

1 paper

NM_004393.6

p.Q289*

c.865C>T

1 paper

NM_004393.6

p.E278fs

c.832_833fs

1 paper

NM_004393.6

p.E278delFs

c.832delG

1 paper

NM_004393.6

p.Y292_P293del2

c.874_878del6

1 paper

NM_004393.6

p.H275D

c.823C>G

2 papers

NM_004393.6

p.P293L

c.878C>T

2 papers

NM_004393.6

p.I274_H275insFs

c.822_823dupTC

1 paper

NM_004393.6

p.A300T

c.898G>A

1 paper

NM_004393.6

p.P304S

c.910C>T

1 paper

NM_004393.6

p.G263V

c.788G>T

1 paper

NM_004393.6

p.P305S

c.913C>T