Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.E219K

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.E219K
c.655G>A
Surrounding Variants
1 paper
NM_000231.3
p.E219V
c.656A>T
1 paper
NM_000231.3
p.I218T
c.653T>C
1 paper
NM_000231.3
p.I218S
c.653T>G
1 paper
NM_000231.3
p.I218V
c.652A>G
1 paper
NM_000231.3
p.G216_K217delins
c.648_650delinsCAT
2 papers
NM_000231.3
p.A215V
c.644C>T
1 paper
NM_000231.3
p.Q223*
c.667C>T
1 paper
NM_000231.3
p.Q223R
c.668A>G
1 paper
NM_000231.3
p.A213P
c.637G>C
1 paper
NM_000231.3
p.Q212P
c.635A>C
1 paper
NM_000231.3
p.Q212E
c.634C>G
1 paper
NM_000231.3
p.I211V
c.631A>G
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