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

13 papers

NM_000023.4

p.E137K

c.409G>A

Surrounding Variants

2 papers

NM_000023.4

p.E137Q

c.409G>C

1 paper

NM_000023.4

p.E137delins

c.409_410delinsCCTGGTGCGCAGCCAGG

2 papers

NM_000023.4

p.E137insFs

c.411dupG

1 paper

NM_000023.4

p.E137G

c.410A>G

1 paper

NM_000023.4

p.E137_L139del0

c.409_417del9

1 paper

NM_000023.4

p.A136_E137del2

c.406_410del6

1 paper

NM_000023.4

p.Q135K

c.403C>A

1 paper

NM_000023.4

p.Q135delFs

c.405delA

4 papers

NM_000023.4

p.Y134*

c.402C>A

5 papers

NM_000023.4

p.Y134*

c.402C>G

2 papers

NM_000023.4

p.L139R

c.416T>G

1 paper

NM_000023.4

p.Y134_A136insFs

c.401_408dup8