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.E43K

c.127G>A

Surrounding Variants

1 paper

NM_004393.6

p.L46I

c.136C>A

1 paper

NM_004393.6

p.L46F

c.136C>T

1 paper

NM_004393.6

p.V39V

c.117C>G

1 paper

NM_004393.6

p.E47delFs

c.139delG

1 paper

NM_004393.6

p.E47D

c.141G>T

1 paper

NM_004393.6

p.E37K

c.109G>A

1 paper

NM_004393.6

p.S52*

c.155C>A

1 paper

NM_004393.6

p.P32P

c.96C>G

1 paper

NM_004393.6

p.P32H

c.95C>A

3 papers

NM_004393.6

p.P32L

c.95C>T

1 paper

NM_004393.6

p.P32A

c.94C>G

1 paper

NM_004393.6

p.L54V

c.160C>G