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.L179S

c.536T>C

Surrounding Variants

2 papers

NM_000023.4

p.R181C

c.541C>T

1 paper

NM_000023.4

p.S177delFs

c.530delC

2 papers

NM_000023.4

p.R184delFs

c.550delC

4 papers

NM_000023.4

p.V175A

c.524T>C

2 papers

NM_000023.4

p.V175delFs

c.525delC

1 paper

NM_000023.4

p.R184R

c.552T>G

6 papers

NM_000023.4

p.L173P

c.518T>C

1 paper

NM_000023.4

p.L173insFs

c.518_519insC

1 paper

NM_000023.4

p.L172R

c.515T>G

1 paper

NM_000023.4

p.G191delFs

c.572delG

13 papers

NM_000023.4

p.R192*

c.574C>T

1 paper

NM_000023.4

p.E194insFs

c.582dupA