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

2 papers

NM_000023.4

p.V196I

c.586G>A

Surrounding Variants

1 paper

NM_000023.4

p.G195Splc

c.585-1G>C

1 paper

NM_000023.4

p.V200_S204del0

c.598_612del15

1 paper

NM_000023.4

p.V200E

c.599T>A

1 paper

NM_000023.4

p.V200G

c.599T>G

1 paper

NM_000023.4

p.V200V

c.600G>A

1 paper

NM_000023.4

p.G201D

c.602G>A

1 paper

NM_000023.4

p.A203P

c.607G>C

1 paper

NM_000023.4

p.A203D

c.608C>A

3 papers

NM_000023.4

p.A203insFs

c.608_609insCG

2 papers

NM_000023.4

p.S204P

c.610T>C

2 papers

NM_000023.4

p.P205S

c.613C>T

3 papers

NM_000023.4

p.P205H

c.614C>A