Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.M43I

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.M43I
c.129G>C
Surrounding Variants
1 paper
NM_000337.6
p.M43I
c.129G>A
1 paper
NM_000337.6
p.M43I
c.129G>T
1 paper
NM_000337.6
p.M43K
c.128T>A
1 paper
NM_000337.6
p.M43R
c.128T>G
1 paper
NM_000337.6
p.M43insFs
c.128_129insG
1 paper
NM_000337.6
p.L47L
c.141G>T
1 paper
NM_000337.6
p.F38delFs
c.112_113delTT
1 paper
NM_000337.6
p.L35fs
c.103_104fs
1 paper
NM_000337.6
p.M52R
c.155T>G
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.I54V
c.160A>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."