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.S441A

c.1321T>G

Surrounding Variants

1 paper

NM_004393.6

p.T442I

c.1325C>T

1 paper

NM_004393.6

p.S438A

c.1312T>G

1 paper

NM_004393.6

p.T445M

c.1334C>T

1 paper

NM_004393.6

p.T436M

c.1307C>T

1 paper

NM_004393.6

p.T446I

c.1337C>T

1 paper

NM_004393.6

p.R448K

c.1343G>A

1 paper

NM_004393.6

p.T431_P432insFs

c.1293_1294insG

1 paper

NM_004393.6

p.R454W

c.1360C>T

1 paper

NM_004393.6

p.R454Q

c.1361G>A

1 paper

NM_004393.6

p.T455A

c.1363A>G

1 paper

NM_004393.6

p.T463A

c.1387A>G

1 paper

NM_004393.6

p.P419S

c.1255C>T