Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.G233R

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.G233R
c.697G>A
Surrounding Variants
1 paper
NM_000231.3
p.G233*
c.697G>T
1 paper
NM_000231.3
p.G233E
c.698G>A
1 paper
NM_000231.3
p.G233V
c.698G>T
1 paper
NM_000231.3
p.S231N
c.692G>A
1 paper
NM_000231.3
p.M234I
c.702G>A
1 paper
NM_000231.3
p.M234I
c.702G>C
1 paper
NM_000231.3
p.S231I
c.692G>T
1 paper
NM_000231.3
p.M234I
c.702G>T
1 paper
NM_000231.3
p.S230_S231delins
c.690_691delinsTT
1 paper
NM_000231.3
p.M234_L235Splc
c.702+1G>A
4 papers
NM_000231.3
p.S230R
c.690T>A
4 papers
NM_000231.3
p.S230R
c.690T>G
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