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.L46delFs

c.136_137delCT

Surrounding Variants

1 paper

NM_000023.4

p.E43insFs

c.128_129insG

1 paper

NM_000023.4

p.H42Q

c.126T>A

1 paper

NM_000023.4

p.H51Q

c.153T>A

1 paper

NM_000023.4

p.H51Q

c.153T>G

1 paper

NM_000023.4

p.H38R

c.113A>G

1 paper

NM_000023.4

p.V52G

c.155T>G

8 papers

NM_000023.4

p.A53T

c.157G>A

1 paper

NM_000023.4

p.H38delFs

c.112_113delCA

5 papers

NM_000023.4

p.A53Splc

c.157+1G>A

1 paper

NM_000023.4

p.V37M

c.109G>A

1 paper

NM_000023.4

p.V37L

c.109G>C

1 paper

NM_000023.4

p.V37L

c.109G>T