Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.S200_D204del0

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.S200_D204del0
c.598_612del15
Surrounding Variants
2 papers
NM_000231.3
p.R199W
c.595C>T
1 paper
NM_000231.3
p.L201insFs
c.602_603insT
1 paper
NM_000231.3
p.T198fs
c.592_593fs
1 paper
NM_000231.3
p.L201_S202insFs
c.603_604insT
1 paper
NM_000231.3
p.P197P
c.591C>A
1 paper
NM_000231.3
p.S202_M203insT
c.604_608ins3
1 paper
NM_000231.3
p.M203L
c.607A>C
1 paper
NM_000231.3
p.S196Y
c.587C>A
1 paper
NM_000231.3
p.S196delFs
c.587delC
1 paper
NM_000231.3
p.E195A
c.584A>C
2 papers
NM_000231.3
p.E195K
c.583G>A
1 paper
NM_000231.3
p.E195insFs
c.583_584insA
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