Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.P98_G99Splc

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.P98_G99Splc
c.294+3A>G
Surrounding Variants
2 papers
NM_001128209.2
p.P97S
c.289C>T
8 papers
NM_000337.6
p.R97Q
c.290G>A
2 papers
NM_000337.6
p.R97*
c.289C>T
1 paper
NM_000337.6
p.Q95*
c.283C>T
3 papers
NM_000337.6
p.E93*
c.277G>T
1 paper
NM_000337.6
p.E84K
c.250G>A
2 papers
NM_000337.6
p.D82_S83delFs
c.246_247delCT
6 papers
NM_000337.6
p.L77L
c.229C>T
2 papers
NM_000337.6
p.G76C
c.226G>T
2 papers
NM_000337.6
p.K75insFs
c.224_225insT
1 paper
NM_000337.6
p.T73R
c.218C>G
1 paper
NM_000337.6
p.T73A
c.217A>G
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