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

9 papers

NM_000023.4

p.R98C

c.292C>T

Surrounding Variants

2 papers

NM_000023.4

p.R98S

c.292C>A

18 papers

NM_000023.4

p.R98H

c.293G>A

11 papers

NM_000023.4

p.D97G

c.290A>G

1 paper

NM_000023.4

p.Q101insFs

c.302dupA

2 papers

NM_000023.4

p.Q101*

c.301C>T

1 paper

NM_000023.4

p.P95S

c.283C>T

1 paper

NM_000023.4

p.Q101R

c.302A>G

1 paper

NM_000023.4

p.T94I

c.281C>T

1 paper

NM_000023.4

p.V102fs

c.304_305fs

1 paper

NM_000023.4

p.V102V

c.306C>A

4 papers

NM_000023.4

p.A93V

c.278C>T

1 paper

NM_000023.4

p.I103F

c.307A>T