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.V358D

c.1073T>A

Surrounding Variants

2 papers

NM_004393.6

p.R359_D360insFs

c.1077_1078insG

1 paper

NM_004393.6

p.P356insFs

c.1068dupT

1 paper

NM_004393.6

p.P349S

c.1045C>T

1 paper

NM_004393.6

p.T367_V368insFs

c.1101_1102insT

3 papers

NM_004393.6

p.T369insFs

c.1106_1107insT

1 paper

NM_004393.6

p.I347_A348insFs

c.1039_1043dup5

1 paper

NM_004393.6

p.S344F

c.1031C>T

1 paper

NM_004393.6

p.S344insFs

c.1030_1031insC

1 paper

NM_004393.6

p.R373*

c.1117C>T

1 paper

NM_004393.6

p.R373Q

c.1118G>A

1 paper

NM_004393.6

p.A375G

c.1124C>G

1 paper

NM_004393.6

p.T341I

c.1022C>T