Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.R17G

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
2 papers
NM_000231.3
p.R17G
c.49A>G
Surrounding Variants
2 papers
NM_000231.3
p.R17W
c.49A>T
1 paper
NM_000231.3
p.E16A
c.47A>C
1 paper
NM_000231.3
p.I15I
c.45A>T
2 papers
NM_000231.3
p.E19_V23del5
c.55_68del15
1 paper
NM_000231.3
p.I15K
c.44T>A
1 paper
NM_000231.3
p.I15T
c.44T>C
1 paper
NM_000231.3
p.I15R
c.44T>G
1 paper
NM_000231.3
p.R17insFs
c.49_50dupAG
1 paper
NM_000231.3
p.N20_Y22del3
c.58_65del9
1 paper
NM_000231.3
p.Q21E
c.61C>G
1 paper
NM_000231.3
p.Q21P
c.62A>C
1 paper
NM_000231.3
p.G12_I13Fs
c.36_37delinsGFs
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