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.V300V

c.900G>A

Surrounding Variants

1 paper

NM_000023.4

p.V300A

c.899T>C

1 paper

NM_000023.4

p.A301G

c.902C>G

2 papers

NM_000023.4

p.V300M

c.898G>A

1 paper

NM_000023.4

p.V300L

c.898G>C

1 paper

NM_000023.4

p.V300L

c.898G>T

1 paper

NM_000023.4

p.L303F

c.907C>T

1 paper

NM_000023.4

p.L298fs

c.892_893fs

1 paper

NM_000023.4

p.P297delFs

c.889delC

1 paper

NM_000023.4

p.L306_L307del1

c.917_919delTGC

1 paper

NM_000023.4

p.L307delFs

c.920delT

2 papers

NM_000023.4

p.T293I

c.878C>T

1 paper

NM_000023.4

p.L308L

c.922C>T