Varaico: Literature-Extracted Genetic Variants

SGCA

306 papers

RefSeq Summary

This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellul...

Pfam Domains

Sarcoglycan_2aa 27–125UCSCSarcoglycan alpha/epsilon N-terminal domain

Sarcoglycan_2_Caa 131–251UCSCSarcoglycan alpha/epsilon second domain

Gene Aliases

HGNC Name

sarcoglycan alpha

HGNC Previous Symbol

ADL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000023.4

p.G68E

c.203G>A

Surrounding Variants

1 paper

NM_000023.4

p.G68*

c.202G>T

2 papers

NM_000023.4

p.L66H

c.197T>A

1 paper

NM_000023.4

p.L72fs

c.214_215fs

2 papers

NM_000023.4

p.A64T

c.190G>A

1 paper

NM_000023.4

p.A64insFs

c.191dupC

1 paper

NM_000023.4

p.P73R

c.218C>G

4 papers

NM_000023.4

p.P73L

c.218C>T

7 papers

NM_000023.4

p.R74W

c.220C>T

1 paper

NM_000023.4

p.R74Q

c.221G>A

1 paper

NM_000023.4

p.W75delFs

c.223delT

2 papers

NM_000023.4

p.Y62H

c.184T>C

1 paper

NM_000023.4

p.W75fs

c.223_224fs