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

2 papers

NM_004393.6

p.P565A

c.1693C>G

Surrounding Variants

2 papers

NM_004393.6

p.L564I

c.1690C>A

1 paper

NM_004393.6

p.D566G

c.1697A>G

2 papers

NM_004393.6

p.G563A

c.1688G>C

1 paper

NM_004393.6

p.M561L

c.1681A>C

1 paper

NM_004393.6

p.M561L

c.1681A>T

1 paper

NM_004393.6

p.G571C

c.1711G>T

1 paper

NM_004393.6

p.Q553_F554ins5

c.1657_1661ins15

2 papers

NM_004393.6

p.S550del1

c.1648_1649delTCC

1 paper

NM_004393.6

p.K582N

c.1746G>C

2 papers

NM_004393.6

p.G583R

c.1747G>A

1 paper

NM_004393.6

p.G583R

c.1747G>C

1 paper

NM_004393.6

p.Q544*

c.1630C>T