Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.R198P

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
3 papers
NM_000337.6
p.R198P
c.593G>C
Surrounding Variants
1 paper
NM_000337.6
p.R198Q
c.593G>A
1 paper
NM_000337.6
p.S199insFs
c.597dupT
1 paper
NM_000337.6
p.P196delFs
c.587delC
1 paper
NM_000337.6
p.L193S
c.578T>C
1 paper
NM_000337.6
p.A204_G207del4
c.610_620del12
1 paper
NM_000337.6
p.S195_E203del0
c.583_609del27
1 paper
NM_000337.6
p.A204S
c.610G>T
1 paper
NM_000337.6
p.R192Splc
c.576-1G>A
1 paper
NM_000337.6
p.K206insFs
c.617_618insA
1 paper
NM_001128209.2
p.G206insFs
c.617_618insA
2 papers
NM_000337.6
p.N211Y
c.631A>T
5 papers
NM_000337.6
p.A219delFs
c.656delC
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