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.H84L

c.251A>T

Surrounding Variants

1 paper

NM_000023.4

p.S82R

c.246C>A

1 paper

NM_000023.4

p.P86insFs

c.257_258ins5

4 papers

NM_000023.4

p.R81C

c.241C>T

1 paper

NM_000023.4

p.F88fs

c.262_263fs

1 paper

NM_000023.4

p.Q80*

c.238C>T

2 papers

NM_000023.4

p.L89F

c.265C>T

3 papers

NM_000023.4

p.L89P

c.266T>C

1 paper

NM_000023.4

p.Y78*

c.234C>A

1 paper

NM_000023.4

p.Y78*

c.234C>G

1 paper

NM_000023.4

p.Y90C

c.269A>G

1 paper

NM_000023.4

p.Y78delins

c.233_234delinsGA

1 paper

NM_000023.4

p.Y78Fs

c.233_234delinsGAAFs