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

44 papers

NM_000023.4

p.R284C

c.850C>T

Surrounding Variants

1 paper

NM_000023.4

p.R284G

c.850C>G

4 papers

NM_000023.4

p.R284H

c.851G>A

1 paper

NM_000023.4

p.D285A

c.854A>C

1 paper

NM_000023.4

p.L287M

c.859T>A

2 papers

NM_000023.4

p.L287V

c.859T>G

1 paper

NM_000023.4

p.L287W

c.860T>G

1 paper

NM_000023.4

p.E280Q

c.838G>C

1 paper

NM_000023.4

p.T279fs

c.835_836fs

1 paper

NM_000023.4

p.P278_T279delFs

c.834_837del4

1 paper

NM_000023.4

p.A290T

c.868G>A

1 paper

NM_000023.4

p.A290G

c.869C>G

2 papers

NM_000023.4

p.T293I

c.878C>T