Varaico: Literature-Extracted Genetic Variants

Gene:SGCD

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
1–12 of 166 variants
27 papers
NM_000337.6
p.S151A
c.451T>G
11 papers
NM_000337.6
p.R165*
c.493C>T
11 papers
NM_000337.6
p.E262K
c.784G>A
10 papers
NM_000337.6
p.R71T
c.212G>C
8 papers
NM_000337.6
p.W30*
c.89G>A
8 papers
NM_000337.6
p.R97Q
c.290G>A
6 papers
NM_000337.6
p.W30*
c.90G>A
6 papers
NM_000337.6
p.L77L
c.229C>T
5 papers
NM_000337.6
p.A131P
c.391G>C
5 papers
NM_000337.6
p.A219delFs
c.656delC
4 papers
NM_000337.6
p.Q283R
c.848A>G
3 papers
NM_000337.6
p.E5D
c.15G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."