Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.A205S

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.A205S
c.613G>T
Surrounding Variants
1 paper
NM_000231.3
p.A205T
c.613G>A
1 paper
NM_000231.3
p.A205delins
c.613_614delinsTT
1 paper
NM_000231.3
p.A205D
c.614C>A
1 paper
NM_000231.3
p.A205V
c.614C>T
1 paper
NM_000231.3
p.P206S
c.616C>T
1 paper
NM_000231.3
p.P206delins
c.617_618delinsTT
1 paper
NM_000231.3
p.M203L
c.607A>C
1 paper
NM_000231.3
p.S202_M203insT
c.604_608ins3
1 paper
NM_000231.3
p.G208S
c.622G>A
1 paper
NM_000231.3
p.L201_S202insFs
c.603_604insT
1 paper
NM_000231.3
p.G208V
c.623G>T
1 paper
NM_000231.3
p.L201insFs
c.602_603insT
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