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.R215_E221del0

c.643_663del21

Surrounding Variants

1 paper

NM_004393.6

p.L210P

c.629T>C

1 paper

NM_004393.6

p.T203I

c.608C>T

3 papers

NM_004393.6

p.T200S

c.599C>G

3 papers

NM_004393.6

p.T200S

c.598A>T

1 paper

NM_004393.6

p.P229insFs

c.686dupC

1 paper

NM_004393.6

p.L199L

c.597C>T

2 papers

NM_004393.6

p.T200_P204del0

c.598_612del15

1 paper

NM_004393.6

p.V230M

c.688G>A

1 paper

NM_004393.6

p.D196V

c.587A>T

1 paper

NM_004393.6

p.D196N

c.586G>A

1 paper

NM_004393.6

p.D196H

c.586G>C

27 papers

NM_004393.6

p.T192M

c.575C>T