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.F240I

c.718T>A

Surrounding Variants

1 paper

NM_000023.4

p.H239P

c.716A>C

3 papers

NM_000023.4

p.V242F

c.724G>T

3 papers

NM_000023.4

p.V242A

c.725T>C

2 papers

NM_000023.4

p.T235I

c.704C>T

1 paper

NM_000023.4

p.N246D

c.736A>G

2 papers

NM_000023.4

p.D234delFs

c.701delA

43 papers

NM_000023.4

p.V247M

c.739G>A

1 paper

NM_000023.4

p.Y233fs

c.697_698fs

2 papers

NM_000023.4

p.C232W

c.696C>G

3 papers

NM_000023.4

p.C232S

c.695G>C

1 paper

NM_000023.4

p.C232delFs

c.696delC

3 papers

NM_000023.4

p.C232S

c.694T>A