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.G409S

c.1225G>A

Surrounding Variants

1 paper

NM_004393.6

p.V411V

c.1233G>A

1 paper

NM_004393.6

p.E412D

c.1236G>C

1 paper

NM_004393.6

p.E412D

c.1236G>T

1 paper

NM_004393.6

p.P413S

c.1237C>T

1 paper

NM_004393.6

p.P413R

c.1238C>G

1 paper

NM_004393.6

p.T404P

c.1210A>C

1 paper

NM_004393.6

p.T414S

c.1240A>T

1 paper

NM_004393.6

p.T414S

c.1241C>G

1 paper

NM_004393.6

p.P419delFs

c.1255delC

1 paper

NM_004393.6

p.P419S

c.1255C>T

1 paper

NM_004393.6

p.R389G

c.1165C>G

1 paper

NM_004393.6

p.T431_P432insFs

c.1293_1294insG