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

111 papers

NM_000023.4

p.R77C

c.229C>T

Surrounding Variants

1 paper

NM_000023.4

p.R77G

c.229C>G

1 paper

NM_000023.4

p.Y78_Q80delFs

c.232_238del7

4 papers

NM_000023.4

p.L76F

c.226C>T

1 paper

NM_000023.4

p.Y78delins

c.233_234delinsGA

1 paper

NM_000023.4

p.Y78Fs

c.233_234delinsGAAFs

2 papers

NM_000023.4

p.W75*

c.225G>A

1 paper

NM_000023.4

p.Y78*

c.234C>A

1 paper

NM_000023.4

p.Y78*

c.234C>G

2 papers

NM_000023.4

p.W75*

c.224G>A

1 paper

NM_000023.4

p.W75fs

c.223_224fs

1 paper

NM_000023.4

p.W75delFs

c.223delT

1 paper

NM_000023.4

p.R74Q

c.221G>A