Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.W252*

SGCG

503 papers

RefSeq Summary

This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is compris...

Pfam Domains

Sarcoglycan_1aa 25–280UCSCSarcoglycan complex subunit protein

Gene Aliases

HGNC Name

sarcoglycan gamma

HGNC Previous Symbols

DMDA1; MAM; LGMD2C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000231.3
p.W252*
c.755G>A
Surrounding Variants
1 paper
NM_000231.3
p.W252*
c.756G>A
1 paper
NM_000231.3
p.W252G
c.754T>G
1 paper
NM_000231.3
p.G253S
c.757G>A
1 paper
NM_000231.3
p.T251M
c.752C>T
1 paper
NM_000231.3
p.T251delFs
c.752delC
1 paper
NM_000231.3
p.T251fs
c.751_752fs
1 paper
NM_000231.3
p.G250_T251delins
c.750_751delinsCT
1 paper
NM_000231.3
p.P254P
c.762C>A
1 paper
NM_000231.3
p.P254P
c.762C>G
1 paper
NM_000231.3
p.Q249insFs
c.745dupC
2 papers
NM_000231.3
p.G256delFs
c.768delC
1 paper
NM_000231.3
p.V248G
c.743T>G
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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."