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

12 papers

NM_000023.4

p.L31P

c.92T>C

Surrounding Variants

2 papers

NM_000023.4

p.P30L

c.89C>T

1 paper

NM_000023.4

p.V32A

c.95T>C

1 paper

NM_000023.4

p.V32V

c.96G>A

1 paper

NM_000023.4

p.V32V

c.96G>C

1 paper

NM_000023.4

p.V32V

c.96G>T

1 paper

NM_000023.4

p.H29_P30insFs

c.87_88insT

1 paper

NM_000023.4

p.H29_V37delFs

c.87_111del25

1 paper

NM_000023.4

p.G33A

c.98G>C

3 papers

NM_000023.4

p.H29insFs

c.86_87insA

10 papers

NM_000023.4

p.R34C

c.100C>T

26 papers

NM_000023.4

p.R34H

c.101G>A

4 papers

NM_000023.4

p.R34L

c.101G>T