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.A107_R110delFs

c.320_330del11

Surrounding Variants

1 paper

NM_000023.4

p.T106P

c.316A>C

2 papers

NM_000023.4

p.A107V

c.320C>T

2 papers

NM_000023.4

p.E104_V105Splc

c.313-2A>G

3 papers

NM_000023.4

p.R110Q

c.329G>A

2 papers

NM_000023.4

p.R110L

c.329G>T

1 paper

NM_000023.4

p.D111N

c.331G>A

1 paper

NM_000023.4

p.S112_F113delFs

c.334_337del4

1 paper

NM_000023.4

p.S112_F113del2

c.334_338del6

3 papers

NM_000023.4

p.T116_R117insFs

c.347_351dup5

1 paper

NM_000023.4

p.T116A

c.346A>G

1 paper

NM_000023.4

p.R117W

c.349C>T

1 paper

NM_000023.4

p.R117Q

c.350G>A