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

6 papers

NM_004393.6

p.A27P

c.79G>C

Surrounding Variants

1 paper

NM_004393.6

p.A27G

c.80C>G

1 paper

NM_004393.6

p.V25D

c.74T>A

1 paper

NM_004393.6

p.V25_M26insC

c.73_77ins3

1 paper

NM_004393.6

p.V24L

c.70G>C

1 paper

NM_004393.6

p.V24L

c.70G>T

1 paper

NM_004393.6

p.V24fs

c.70_71fs

2 papers

NM_004393.6

p.V24insFs

c.70_71insG

1 paper

NM_004393.6

p.V24delFs

c.71_72delTG

1 paper

NM_004393.6

p.P32A

c.94C>G

1 paper

NM_004393.6

p.P32S

c.94C>T

1 paper

NM_004393.6

p.P32H

c.95C>A

3 papers

NM_004393.6

p.P32L

c.95C>T