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.T63P

c.187A>C

Surrounding Variants

1 paper

NM_004393.6

p.P62L

c.185C>T

1 paper

NM_004393.6

p.P62T

c.184C>A

1 paper

NM_004393.6

p.V65I

c.193G>A

1 paper

NM_004393.6

p.L57I

c.169C>A

1 paper

NM_004393.6

p.L57_T63delFs

c.170_189del20

2 papers

NM_004393.6

p.S55*

c.164C>A

1 paper

NM_004393.6

p.S55*

c.164C>G

1 paper

NM_004393.6

p.L54L

c.162C>A

1 paper

NM_004393.6

p.L54R

c.161T>G

1 paper

NM_004393.6

p.L54V

c.160C>G

1 paper

NM_004393.6

p.L54F

c.160C>T

1 paper

NM_004393.6

p.S52*

c.155C>A