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.A160S

c.478G>T

Surrounding Variants

3 papers

NM_000023.4

p.L158F

c.472C>T

1 paper

NM_000023.4

p.F157S

c.470T>C

1 paper

NM_000023.4

p.S155N

c.464G>A

1 paper

NM_000023.4

p.P153L

c.458C>T

2 papers

NM_000023.4

p.S151*

c.452C>G

2 papers

NM_000023.4

p.S151A

c.451T>G

1 paper

NM_000023.4

p.L172R

c.515T>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.E146K

c.436G>A

1 paper

NM_000023.4

p.E146Q

c.436G>C

1 paper

NM_000023.4

p.A145E

c.434C>A