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.D266N

c.796G>A

Surrounding Variants

1 paper

NM_000023.4

p.G265fs

c.793_794fs

2 papers

NM_000023.4

p.P264insFs

c.790_791dupCC

1 paper

NM_000023.4

p.E260delFs

c.778_779delGA

1 paper

NM_000023.4

p.P257_A258ins5

c.769_773ins15

1 paper

NM_000023.4

p.P278_T279delFs

c.834_837del4

1 paper

NM_000023.4

p.S253_V254del1

c.759_761delAGT

1 paper

NM_000023.4

p.T279fs

c.835_836fs

1 paper

NM_000023.4

p.K252fs

c.754_755fs

1 paper

NM_000023.4

p.E280Q

c.838G>C

1 paper

NM_000023.4

p.V250G

c.749T>G

2 papers

NM_000023.4

p.V250L

c.748G>C

3 papers

NM_000023.4

p.V250L

c.748G>T