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.L120H

c.359T>A

Surrounding Variants

1 paper

NM_004393.6

p.L120P

c.359T>C

1 paper

NM_004393.6

p.L122insFs

c.364dupC

2 papers

NM_004393.6

p.P121L

c.362C>T

1 paper

NM_004393.6

p.G119R

c.355G>C

1 paper

NM_004393.6

p.Q113fs

c.337_338fs

1 paper

NM_004393.6

p.Q113_S114delFs

c.337_340del4

14 papers

NM_004393.6

p.D111N

c.331G>A

1 paper

NM_004393.6

p.W110*

c.330G>A

1 paper

NM_004393.6

p.W110*

c.329G>A

1 paper

NM_004393.6

p.H109Y

c.325C>T

1 paper

NM_004393.6

p.S132*

c.395C>G

1 paper

NM_004393.6

p.W107*

c.321G>A