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

1–12 of 294 variants

111 papers

NM_000023.4

p.R77C

c.229C>T

44 papers

NM_000023.4

p.R284C

c.850C>T

43 papers

NM_000023.4

p.V247M

c.739G>A

26 papers

NM_000023.4

p.R34H

c.101G>A

18 papers

NM_000023.4

p.R98H

c.293G>A

13 papers

NM_000023.4

p.I124T

c.371T>C

13 papers

NM_000023.4

p.E137K

c.409G>A

13 papers

NM_000023.4

p.R192*

c.574C>T

12 papers

NM_000023.4

p.L31P

c.92T>C

11 papers

NM_000023.4

p.D97G

c.290A>G

10 papers

NM_000023.4

p.R34C

c.100C>T

9 papers

NM_000023.4

p.R98C

c.292C>T