Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.Q282R

SGCD

191 papers

RefSeq Summary

The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-acti...

Pfam Domains

Sarcoglycan_1aa 23–278UCSCSarcoglycan complex subunit protein

Gene Aliases

HGNC Name

sarcoglycan delta

HGNC Alias Symbols

DAGD; LGMD2F; CMD1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001128209.2
p.Q282R
c.845A>G
NM_000337.6
p.Q283R
c.848A>G
Surrounding Variants
1 paper
NM_000337.6
p.T286A
c.856A>G
1 paper
NM_000337.6
p.S280F
c.839C>T
1 paper
NM_000337.6
p.S287N
c.860G>A
1 paper
NM_000337.6
p.A278_G279delFs
c.834_837del4
1 paper
NM_000337.6
p.Q275*
c.823C>T
1 paper
NM_000337.6
p.S274F
c.821C>T
1 paper
NM_000337.6
p.R270K
c.809G>A
1 paper
NM_000337.6
p.G269E
c.806G>A
1 paper
NM_000337.6
p.C266Y
c.797G>A
11 papers
NM_000337.6
p.E262K
c.784G>A
1 paper
NM_000337.6
p.G255E
c.764G>A
1 paper
NM_000337.6
p.T254A
c.760A>G
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