Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.G167R

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
1 paper
NM_001128209.2
p.G167R
c.499G>A
Surrounding Variants
1 paper
NM_001128209.2
p.L166*
c.497T>G
1 paper
NM_000337.6
p.V166G
c.497T>G
2 papers
NM_000337.6
p.R165Q
c.494G>A
11 papers
NM_000337.6
p.R165*
c.493C>T
1 paper
NM_000337.6
p.G160*
c.478G>T
1 paper
NM_000337.6
p.V158A
c.473T>C
1 paper
NM_000337.6
p.V157A
c.470T>C
1 paper
NM_000337.6
p.D153G
c.458A>G
3 papers
NM_000337.6
p.S151C
c.452C>G
27 papers
NM_000337.6
p.S151A
c.451T>G
1 paper
NM_000337.6
p.F150F
c.450C>T
1 paper
NM_000337.6
p.F150V
c.448T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."