Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.T219delFs

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_001128209.2
p.T219delFs
c.657delC
Surrounding Variants
1 paper
NM_000337.6
p.T220P
c.658A>C
1 paper
NM_000337.6
p.T220fs
c.658_659fs
1 paper
NM_000337.6
p.T220I
c.659C>T
5 papers
NM_000337.6
p.A219delFs
c.656delC
1 paper
NM_000337.6
p.C221Y
c.662G>A
2 papers
NM_000337.6
p.R222K
c.665G>A
2 papers
NM_000337.6
p.N211Y
c.631A>T
1 paper
NM_001128209.2
p.D230E
c.690T>A
1 paper
NM_001128209.2
p.G206insFs
c.617_618insA
1 paper
NM_000337.6
p.E233_I234Splc
c.699+1G>T
1 paper
NM_000337.6
p.K206insFs
c.617_618insA
1 paper
NM_000337.6
p.A204S
c.610G>T
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