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

2 papers

NM_004393.6

p.A702V

c.2105C>T

Surrounding Variants

1 paper

NM_004393.6

p.T703ins1

c.2107_2108insAGG

1 paper

NM_004393.6

p.F700S

c.2099T>C

1 paper

NM_004393.6

p.V707delFs

c.2120_2121delTG

1 paper

NM_004393.6

p.S712_H715del4

c.2134_2144del12

1 paper

NM_004393.6

p.Q717H

c.2151G>C

1 paper

NM_004393.6

p.Q717H

c.2151G>T

1 paper

NM_004393.6

p.G686R

c.2056G>A

1 paper

NM_004393.6

p.E683_D684delFs

c.2049_2050delGG

1 paper

NM_004393.6

p.P723delFs

c.2167delC

1 paper

NM_004393.6

p.P723fs

c.2167_2168fs

2 papers

NM_004393.6

p.P724L

c.2171C>T

1 paper

NM_004393.6

p.R680W

c.2038C>T