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

1 paper

NM_000023.4

p.C222F

c.665G>T

Surrounding Variants

2 papers

NM_000023.4

p.C222Y

c.665G>A

8 papers

NM_000023.4

p.R221H

c.662G>A

1 paper

NM_000023.4

p.R221P

c.662G>C

4 papers

NM_000023.4

p.R221C

c.661C>T

1 paper

NM_000023.4

p.Q224P

c.671A>C

1 paper

NM_000023.4

p.H219delFs

c.657delC

5 papers

NM_000023.4

p.P228Q

c.683C>A

1 paper

NM_000023.4

p.L229delFs

c.687delT

2 papers

NM_000023.4

p.S215F

c.644C>T

2 papers

NM_000023.4

p.L230fs

c.688_689fs

1 paper

NM_000023.4

p.A214T

c.640G>A

3 papers

NM_000023.4

p.C232S

c.694T>A