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.I124T

c.371T>C

Surrounding Variants

1 paper

NM_000023.4

p.L122L

c.366G>A

1 paper

NM_000023.4

p.D126_E128insFs

c.377_384dup8

1 paper

NM_000023.4

p.L122P

c.365T>C

1 paper

NM_000023.4

p.E128_G129insG

c.382_386ins3

1 paper

NM_000023.4

p.G129R

c.385G>C

1 paper

NM_000023.4

p.L120delFs

c.358_359delCT

1 paper

NM_000023.4

p.G129Splc

c.385+1G>T

1 paper

NM_000023.4

p.R117Q

c.350G>A

1 paper

NM_000023.4

p.R117W

c.349C>T

3 papers

NM_000023.4

p.T116_R117insFs

c.347_351dup5

1 paper

NM_000023.4

p.T116A

c.346A>G

1 paper

NM_000023.4

p.S112_F113delFs

c.334_337del4