Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.K138delFs

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_000337.6
p.K138delFs
c.414delA
Surrounding Variants
1 paper
NM_000337.6
p.K137_F139del0
c.409_417del9
1 paper
NM_000337.6
p.Y135delFs
c.405delT
1 paper
NM_000337.6
p.F139C
c.416T>G
2 papers
NM_000337.6
p.V141insFs
c.422dupT
1 paper
NM_000337.6
p.V132I
c.394G>A
5 papers
NM_000337.6
p.A131P
c.391G>C
1 paper
NM_000337.6
p.T143fs
c.427_428fs
1 paper
NM_000337.6
p.G146V
c.437G>T
1 paper
NM_000337.6
p.L148*
c.443T>A
1 paper
NM_000337.6
p.L148F
c.444G>C
1 paper
NM_000337.6
p.L148F
c.444G>T
1 paper
NM_000337.6
p.F150V
c.448T>G
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."