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.S142G

c.424A>G

Surrounding Variants

4 papers

NM_000023.4

p.R141S

c.421C>A

1 paper

NM_000023.4

p.H143N

c.427C>A

2 papers

NM_000023.4

p.R141C

c.421C>T

1 paper

NM_000023.4

p.H143Y

c.427C>T

2 papers

NM_000023.4

p.L139R

c.416T>G

1 paper

NM_000023.4

p.A145E

c.434C>A

1 paper

NM_000023.4

p.E146K

c.436G>A

1 paper

NM_000023.4

p.E146Q

c.436G>C

2 papers

NM_000023.4

p.E137insFs

c.411dupG

1 paper

NM_000023.4

p.E137G

c.410A>G

13 papers

NM_000023.4

p.E137K

c.409G>A

2 papers

NM_000023.4

p.E137Q

c.409G>C