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

1–12 of 316 variants

27 papers

NM_004393.6

p.T192M

c.575C>T

14 papers

NM_004393.6

p.D111N

c.331G>A

12 papers

NM_004393.6

p.C669F

c.2006G>T

10 papers

NM_004393.6

p.V74I

c.220G>A

9 papers

NM_004393.6

p.S14W

c.41C>G

8 papers

NM_004393.6

p.S654A

c.1960T>G

6 papers

NM_004393.6

p.A27P

c.79G>C

6 papers

NM_004393.6

p.L86F

c.258G>C

6 papers

NM_004393.6

p.R776C

c.2326C>T

5 papers

NM_004393.6

p.L86F

c.258G>T

4 papers

NM_004393.6

p.I87V

c.259A>G

4 papers

NM_004393.6

p.T317A

c.949A>G