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.L86F

c.258G>C

Surrounding Variants

5 papers

NM_004393.6

p.L86F

c.258G>T

4 papers

NM_004393.6

p.I87V

c.259A>G

2 papers

NM_004393.6

p.S89C

c.266C>G

1 paper

NM_004393.6

p.S90R

c.268A>C

1 paper

NM_004393.6

p.S90R

c.270T>A

1 paper

NM_004393.6

p.S90R

c.270T>G

1 paper

NM_004393.6

p.G91A

c.272G>C

1 paper

NM_004393.6

p.T81T

c.243C>A

1 paper

NM_004393.6

p.T81T

c.243C>G

1 paper

NM_004393.6

p.D92A

c.275A>C

1 paper

NM_004393.6

p.I93V

c.277A>G

10 papers

NM_004393.6

p.V74I

c.220G>A