Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.V128_G129insG

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
1 paper
NM_000231.3
p.V128_G129insG
c.382_386ins3
Surrounding Variants
1 paper
NM_000231.3
p.G129Splc
c.385+1G>T
1 paper
NM_000231.3
p.L126*
c.377T>A
1 paper
NM_000231.3
p.L126_V128insFs
c.377_384dup8
1 paper
NM_000231.3
p.R125fs
c.373_374fs
1 paper
NM_000231.3
p.G124_R125insFs
c.372_373dupCA
2 papers
NM_000231.3
p.G124_L126del3
c.370_377del9
1 paper
NM_000231.3
p.V122delFs
c.364delG
2 papers
NM_000231.3
p.G120R
c.358G>A
1 paper
NM_000231.3
p.G120R
c.358G>C
1 paper
NM_000231.3
p.E119G
c.356A>G
1 paper
NM_000231.3
p.E119Q
c.355G>C
1 paper
NM_000231.3
p.S118*
c.353C>A
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