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.D20_E22del3

c.58_65del9

Surrounding Variants

2 papers

NM_000023.4

p.G19_A23del5

c.55_68del15

1 paper

NM_000023.4

p.Q25_T26insC

c.73_77ins3

2 papers

NM_000023.4

p.Q25*

c.73C>T

1 paper

NM_000023.4

p.V13Splc

c.38-2A>C

1 paper

NM_000023.4

p.T26A

c.76A>G

3 papers

NM_000023.4

p.H29insFs

c.86_87insA

1 paper

NM_000023.4

p.H29_V37delFs

c.87_111del25

1 paper

NM_000023.4

p.H29_P30insFs

c.87_88insT

2 papers

NM_000023.4

p.P30L

c.89C>T

12 papers

NM_000023.4

p.L31P

c.92T>C

1 paper

NM_000023.4

p.V32A

c.95T>C

1 paper

NM_000023.4

p.V32V

c.96G>A