Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.W30*

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
6 papers
NM_000337.6
p.W30*
c.90G>A
Surrounding Variants
1 paper
NM_000337.6
p.R31W
c.91C>T
8 papers
NM_000337.6
p.W30*
c.89G>A
3 papers
NM_001128209.2
p.R30Q
c.89G>A
NM_000337.6
p.R31Q
c.92G>A
2 papers
NM_000337.6
p.G29_W30insFs
c.87_88insT
1 paper
NM_000337.6
p.K32E
c.94A>G
1 paper
NM_000337.6
p.G29insFs
c.86_87insA
1 paper
NM_000337.6
p.G29_F37delFs
c.87_111del25
1 paper
NM_000337.6
p.Y28Y
c.84T>C
3 papers
NM_000337.6
p.R33*
c.97C>T
1 paper
NM_000337.6
p.C34Y
c.101G>A
1 paper
NM_000337.6
p.C34delFs
c.102delC
1 paper
NM_000337.6
p.L35fs
c.103_104fs
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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."