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.S14fs

c.40_41fs

Surrounding Variants

1 paper

NM_004393.6

p.S14delFs

c.41delC

1 paper

NM_004393.6

p.L13L

c.39C>A

9 papers

NM_004393.6

p.S14W

c.41C>G

2 papers

NM_004393.6

p.S14L

c.41C>T

1 paper

NM_004393.6

p.G15R

c.43G>C

1 paper

NM_004393.6

p.T17N

c.50C>A

1 paper

NM_004393.6

p.T17_V25insFs

c.51_73dup23

1 paper

NM_004393.6

p.L20_L22del3

c.58_65del9

1 paper

NM_004393.6

p.L9insFs

c.25_26insC

1 paper

NM_004393.6

p.L19L

c.57C>G

1 paper

NM_004393.6

p.L11_P12del1

c.32_34delTGC

1 paper

NM_004393.6

p.L20R

c.59T>G