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.K211N

c.633G>T

Surrounding Variants

2 papers

NM_000023.4

p.K211N

c.633G>C

1 paper

NM_000023.4

p.M212V

c.634A>G

1 paper

NM_000023.4

p.A214T

c.640G>A

1 paper

NM_000023.4

p.C209insFs

c.626dupG

1 paper

NM_000023.4

p.C209fs

c.625_626fs

1 paper

NM_000023.4

p.T208I

c.623C>T

2 papers

NM_000023.4

p.T208A

c.622A>G

2 papers

NM_000023.4

p.S215F

c.644C>T

2 papers

NM_000023.4

p.S207F

c.620C>T

1 paper

NM_000023.4

p.F206insFs

c.617_618insA

3 papers

NM_000023.4

p.P205H

c.614C>A

2 papers

NM_000023.4

p.P205S

c.613C>T